nsv6631720
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:159,093
- 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: 1205 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1205 SVs from 82 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6631720 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nsv6631720 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18285045 | duplication | OSC2490 | SNP array | Probe signal intensity | 11 |
| nssv18287478 | duplication | OSC2912 | SNP array | Probe signal intensity | 11 |
| nssv18288422 | duplication | OSC3161 | SNP array | Probe signal intensity | 9 |
| nssv18290205 | duplication | OSC3553 | SNP array | Probe signal intensity | 10 |
| nssv18290777 | duplication | OSC3763 | SNP array | Probe signal intensity | nssv18290778, nssv18290779, nssv18290780 |
| nssv18294453 | duplication | OSC4401 | SNP array | Probe signal intensity | 5 |
| nssv18294524 | duplication | OSC4455 | SNP array | Probe signal intensity | 6 |
| nssv18295046 | duplication | OSC0450 | SNP array | Probe signal intensity | nssv18294154, nssv18294158, nssv18295047 |
| nssv18295358 | duplication | OSC4560 | SNP array | Probe signal intensity | 5 |
| nssv18295656 | duplication | OSC4607 | SNP array | Probe signal intensity | 8 |
| nssv18295818 | duplication | OSC4490 | SNP array | Probe signal intensity | 5 |
| nssv18296670 | duplication | OSC0499 | SNP array | Probe signal intensity | 10 |
| nssv18316338 | duplication | OSC0087 | SNP array | Probe signal intensity | 8 |
| nssv18320399 | duplication | OSC1036 | SNP array | Probe signal intensity | 5 |
| nssv18323563 | duplication | OSC1592 | SNP array | Probe signal intensity | 9 |
| nssv18324314 | duplication | OSC1668 | SNP array | Probe signal intensity | 10 |
| nssv18325898 | duplication | OSC0202 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18285045 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18287478 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18288422 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18290205 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18290777 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18294453 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18294524 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18295046 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18295358 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18295656 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18295818 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18296670 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18316338 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18320399 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18323563 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18324314 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18325898 | Remapped | Perfect | NC_000007.14:g.(?_ 101325082)_(101484 174_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,325,082 | 101,484,174 |
| nssv18285045 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18287478 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18288422 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18290205 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18290777 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18294453 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18294524 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18295046 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18295358 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18295656 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18295818 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18296670 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18316338 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18320399 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18323563 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18324314 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 | ||
| nssv18325898 | Submitted genomic | NC_000007.13:g.(?_ 100968363)_(101127 455_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 100,968,363 | 101,127,455 |