nsv4371169
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,906
- Publication(s):Zarrei et al. 2019
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: 772 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 772 SVs from 83 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4371169 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nsv4371169 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15613800 | copy number gain | 1-0707-001 | SNP array | Genotyping | 20 |
| nssv15616864 | copy number gain | 1-0811-003 | SNP array | Genotyping | 22 |
| nssv15634733 | copy number gain | 12-4934-002 | SNP array | Genotyping | 16 |
| nssv15641482 | copy number gain | 14-0351-003 | SNP array | Genotyping | 18 |
| nssv15642514 | copy number gain | 15-1120-002 | SNP array | Genotyping | 17 |
| nssv15643929 | copy number gain | 16-1007-002 | SNP array | Genotyping | 21 |
| nssv15669504 | copy number gain | 7-0263-003 | SNP array | Genotyping | 24 |
| nssv15676078 | copy number gain | 213050 | SNP array | Genotyping | 32 |
| nssv15677137 | copy number gain | 219364 | SNP array | Genotyping | 22 |
| nssv15678188 | copy number gain | 181213 | SNP array | Genotyping | 18 |
| nssv15688537 | copy number loss | OCD34-S_896671 | SNP array | Genotyping | 30 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15613800 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15616864 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15634733 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15641482 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15642514 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15643929 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15669504 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15676078 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15677137 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15678188 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15688537 | Remapped | Perfect | NC_000005.10:g.(?_ 180947523)_(181015 428_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,523 | 181,015,428 |
| nssv15613800 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 | ||
| nssv15616864 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 | ||
| nssv15634733 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 | ||
| nssv15641482 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 | ||
| nssv15642514 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 | ||
| nssv15643929 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 | ||
| nssv15669504 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 | ||
| nssv15676078 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 | ||
| nssv15677137 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 | ||
| nssv15678188 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 | ||
| nssv15688537 | Submitted genomic | NC_000005.9:g.(?_1 80374523)_(1804424 28_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,523 | 180,442,428 |