nsv6622007
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:39
- Validation:Not tested
- Clinical Assertions: No
- Region Size:202,563
- Publication(s):Zarrei et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2823 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 3013 SVs from 104 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622007 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nsv6622007 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281673 | duplication | OSC2076 | SNP array | Probe signal intensity | 5 |
| nssv18282416 | duplication | OSC2157 | SNP array | Probe signal intensity | 5 |
| nssv18283280 | duplication | OSC2354 | SNP array | Probe signal intensity | nssv18283278, nssv18283279, nssv18283281 |
| nssv18283710 | duplication | OSC2425 | SNP array | Probe signal intensity | 6 |
| nssv18284244 | duplication | OSC2581 | SNP array | Probe signal intensity | nssv18284849 |
| nssv18284350 | duplication | OSC2653 | SNP array | Probe signal intensity | 6 |
| nssv18284614 | duplication | OSC2672 | SNP array | Probe signal intensity | 9 |
| nssv18284900 | duplication | OSC2616 | SNP array | Probe signal intensity | 6 |
| nssv18285016 | duplication | OSC2467 | SNP array | Probe signal intensity | 5 |
| nssv18285592 | duplication | OSC2873 | SNP array | Probe signal intensity | 9 |
| nssv18286341 | duplication | OSC0286 | SNP array | Probe signal intensity | 9 |
| nssv18287810 | duplication | OSC3130 | SNP array | Probe signal intensity | 10 |
| nssv18287857 | duplication | OSC3161 | SNP array | Probe signal intensity | 9 |
| nssv18288382 | duplication | OSC3360 | SNP array | Probe signal intensity | 11 |
| nssv18288735 | duplication | OSC3160 | SNP array | Probe signal intensity | 6 |
| nssv18289489 | duplication | OSC3490 | SNP array | Probe signal intensity | 5 |
| nssv18291411 | duplication | OSC0387 | SNP array | Probe signal intensity | 5 |
| nssv18292952 | duplication | OSC4150 | SNP array | Probe signal intensity | 10 |
| nssv18293116 | duplication | OSC4107 | SNP array | Probe signal intensity | 9 |
| nssv18293133 | duplication | OSC4117 | SNP array | Probe signal intensity | 7 |
| nssv18293887 | duplication | OSC4178 | SNP array | Probe signal intensity | 6 |
| nssv18294514 | duplication | OSC4448 | SNP array | Probe signal intensity | 6 |
| nssv18295497 | duplication | OSC4482 | SNP array | Probe signal intensity | 9 |
| nssv18295608 | duplication | OSC4573 | SNP array | Probe signal intensity | nssv18295381, nssv18295924 |
| nssv18296120 | duplication | OSC4467 | SNP array | Probe signal intensity | 7 |
| nssv18296758 | duplication | OSC4749 | SNP array | Probe signal intensity | 8 |
| nssv18297161 | duplication | OSC4791 | SNP array | Probe signal intensity | 14 |
| nssv18299145 | duplication | OSC0545 | SNP array | Probe signal intensity | nssv18300021, nssv18300026, nssv18300027 |
| nssv18300169 | duplication | OSC5406 | SNP array | Probe signal intensity | 8 |
| nssv18302112 | duplication | OSC5716 | SNP array | Probe signal intensity | 6 |
| nssv18302307 | duplication | OSC5664 | SNP array | Probe signal intensity | 8 |
| nssv18302312 | duplication | OSC5665 | SNP array | Probe signal intensity | 10 |
| nssv18309116 | duplication | OSC0736 | SNP array | Probe signal intensity | 7 |
| nssv18314002 | duplication | OSC0813 | SNP array | Probe signal intensity | 13 |
| nssv18316036 | duplication | OSC0085 | SNP array | Probe signal intensity | 8 |
| nssv18320089 | duplication | OSC0107 | SNP array | Probe signal intensity | 8 |
| nssv18324578 | duplication | OSC1654 | SNP array | Probe signal intensity | 9 |
| nssv18325053 | duplication | OSC0016 | SNP array | Probe signal intensity | 10 |
| nssv18325264 | duplication | OSC0195 | SNP array | Probe signal intensity | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281673 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18282416 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18283280 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18283710 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18284244 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18284350 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18284614 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18284900 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18285016 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18285592 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18286341 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18287810 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18287857 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18288382 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18288735 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18289489 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18291411 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18292952 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18293116 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18293133 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18293887 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18294514 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18295497 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18295608 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18296120 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18296758 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18297161 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18299145 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18300169 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18302112 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18302307 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18302312 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18309116 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18314002 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18316036 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18320089 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18324578 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18325053 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18325264 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19948340 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,948,340 |
| nssv18281673 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18282416 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18283280 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18283710 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18284244 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18284350 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18284614 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18284900 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18285016 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18285592 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18286341 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18287810 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18287857 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18288382 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18288735 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18289489 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18291411 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18292952 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18293116 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18293133 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18293887 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18294514 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18295497 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18295608 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18296120 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18296758 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18297161 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18299145 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18300169 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18302112 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18302307 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18302312 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18309116 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18314002 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18316036 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18320089 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18324578 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18325053 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 | ||
| nssv18325264 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20416499 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,416,499 |