nsv6622478
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:190,800
- 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: 2767 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 2957 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6622478 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nsv6622478 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18287605 | duplication | OSC3013 | SNP array | Probe signal intensity | 11 |
| nssv18288785 | duplication | OSC3192 | SNP array | Probe signal intensity | 5 |
| nssv18291159 | duplication | OSC3780 | SNP array | Probe signal intensity | 5 |
| nssv18291437 | duplication | OSC3761 | SNP array | Probe signal intensity | 5 |
| nssv18292186 | duplication | OSC3856 | SNP array | Probe signal intensity | nssv18292504, nssv18292505, nssv18291820 |
| nssv18299423 | duplication | OSC5352 | SNP array | Probe signal intensity | 5 |
| nssv18299490 | duplication | OSC5149 | SNP array | Probe signal intensity | nssv18299489, nssv18298921 |
| nssv18299802 | duplication | OSC5142 | SNP array | Probe signal intensity | 5 |
| nssv18299812 | duplication | OSC5153 | SNP array | Probe signal intensity | 7 |
| nssv18300982 | duplication | OSC5567 | SNP array | Probe signal intensity | 12 |
| nssv18301228 | duplication | OSC5530 | SNP array | Probe signal intensity | 6 |
| nssv18321539 | duplication | OSC1207 | SNP array | Probe signal intensity | 5 |
| nssv18324447 | duplication | OSC1560 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv18287605 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18288785 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18291159 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18291437 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18292186 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18299423 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18299490 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18299802 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18299812 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18300982 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18301228 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18321539 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18324447 | Remapped | Perfect | NC_000014.9:g.(?_1 9745778)_(19936577 _?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 19,745,778 | 19,936,577 |
| nssv18287605 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18288785 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18291159 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18291437 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18292186 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18299423 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18299490 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18299802 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18299812 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18300982 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18301228 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18321539 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 | ||
| nssv18324447 | Submitted genomic | NC_000014.8:g.(?_2 0213937)_(20404736 _?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 20,213,937 | 20,404,736 |