nsv4380358
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:30,174
- 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: 373 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 373 SVs from 58 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4380358 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 63,869,747 | 63,899,920 |
nsv4380358 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 61,947,107 | 61,977,280 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15612607 | copy number loss | 1-0703-003 | SNP array | Genotyping | 27 |
nssv15639576 | copy number loss | 14-0260-002 | SNP array | Genotyping | 13 |
nssv15644682 | copy number loss | 16-1000-003 | SNP array | Genotyping | 23 |
nssv15665622 | copy number loss | 7-0081-003 | SNP array | Genotyping | 21 |
nssv15694132 | copy number loss | 220321 | SNP array | Genotyping | 13 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15612607 | Remapped | Perfect | NC_000017.11:g.(?_ 63869747)_(6389992 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 63,869,747 | 63,899,920 |
nssv15639576 | Remapped | Perfect | NC_000017.11:g.(?_ 63869747)_(6389992 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 63,869,747 | 63,899,920 |
nssv15644682 | Remapped | Perfect | NC_000017.11:g.(?_ 63869747)_(6389992 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 63,869,747 | 63,899,920 |
nssv15665622 | Remapped | Perfect | NC_000017.11:g.(?_ 63869747)_(6389992 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 63,869,747 | 63,899,920 |
nssv15694132 | Remapped | Perfect | NC_000017.11:g.(?_ 63869747)_(6389992 0_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 63,869,747 | 63,899,920 |
nssv15612607 | Submitted genomic | NC_000017.10:g.(?_ 61947107)_(6197728 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,947,107 | 61,977,280 | ||
nssv15639576 | Submitted genomic | NC_000017.10:g.(?_ 61947107)_(6197728 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,947,107 | 61,977,280 | ||
nssv15644682 | Submitted genomic | NC_000017.10:g.(?_ 61947107)_(6197728 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,947,107 | 61,977,280 | ||
nssv15665622 | Submitted genomic | NC_000017.10:g.(?_ 61947107)_(6197728 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,947,107 | 61,977,280 | ||
nssv15694132 | Submitted genomic | NC_000017.10:g.(?_ 61947107)_(6197728 0_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 61,947,107 | 61,977,280 |