nsv4368173
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:30
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67,945
- 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4368173 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nsv4368173 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15611712 | copy number gain | 1-0112-001 | SNP array | Genotyping | 16 |
nssv15617032 | copy number gain | 1-0834-004 | SNP array | Genotyping | 20 |
nssv15620182 | copy number gain | 1-0951-003 | SNP array | Genotyping | 25 |
nssv15623434 | copy number gain | 1-0261-001 | SNP array | Genotyping | 27 |
nssv15624133 | copy number gain | 1-0261-003 | SNP array | Genotyping | 20 |
nssv15627520 | copy number gain | 1-0488-001 | SNP array | Genotyping | 15 |
nssv15629193 | copy number gain | 1-0566-001 | SNP array | Genotyping | 23 |
nssv15629249 | copy number gain | 1-0566-003 | SNP array | Genotyping | 21 |
nssv15630048 | copy number gain | 1-0599-005 | SNP array | Genotyping | 23 |
nssv15634614 | copy number gain | 12-4310-001 | SNP array | Genotyping | 20 |
nssv15635261 | copy number gain | 12-4139-003 | SNP array | Genotyping | 27 |
nssv15635489 | copy number gain | 12-4453-002 | SNP array | Genotyping | 28 |
nssv15637137 | copy number gain | 12-4855-001 | SNP array | Genotyping | 22 |
nssv15638214 | copy number gain | 14-0050-002 | SNP array | Genotyping | 20 |
nssv15640857 | copy number gain | 14-0273-003 | SNP array | Genotyping | 16 |
nssv15641896 | copy number gain | 14-0382-002 | SNP array | Genotyping | 25 |
nssv15643858 | copy number gain | 16-1005-003 | SNP array | Genotyping | 13 |
nssv15646059 | copy number gain | 16-1011-005 | SNP array | Genotyping | 16 |
nssv15649731 | copy number gain | 2-1334-001 | SNP array | Genotyping | 19 |
nssv15656681 | copy number gain | 3-0352-000 | SNP array | Genotyping | 24 |
nssv15664264 | copy number gain | 7-0052-003 | SNP array | Genotyping | 33 |
nssv15667869 | copy number gain | 7-0132-003 | SNP array | Genotyping | 20 |
nssv15670458 | copy number gain | 7-0173-003 | SNP array | Genotyping | 31 |
nssv15670475 | copy number gain | 7-0174-003 | SNP array | Genotyping | 16 |
nssv15671417 | copy number gain | 7-0286-004 | SNP array | Genotyping | 32 |
nssv15671868 | copy number gain | 9-0018-002 | SNP array | Genotyping | 16 |
nssv15674344 | copy number gain | 9-0034-001 | SNP array | Genotyping | 28 |
nssv15676648 | copy number gain | 181068 | SNP array | Genotyping | 13 |
nssv15677415 | copy number gain | 159772 | SNP array | Genotyping | 18 |
nssv15680259 | copy number gain | 222688 | SNP array | Genotyping | 20 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15611712 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15617032 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15620182 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15623434 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15624133 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15627520 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15629193 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15629249 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15630048 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15634614 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15635261 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15635489 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15637137 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15638214 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15640857 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15641896 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15643858 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15646059 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15649731 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15656681 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15664264 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15667869 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15670458 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15670475 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15671417 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15671868 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15674344 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15676648 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15677415 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15680259 | Remapped | Perfect | NC_000005.10:g.(?_ 180947484)_(181015 428_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 180,947,484 | 181,015,428 |
nssv15611712 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15617032 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15620182 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15623434 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15624133 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15627520 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15629193 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15629249 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15630048 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15634614 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15635261 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15635489 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15637137 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15638214 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15640857 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15641896 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15643858 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15646059 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15649731 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15656681 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15664264 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15667869 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15670458 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15670475 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15671417 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15671868 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15674344 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15676648 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15677415 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 | ||
nssv15680259 | Submitted genomic | NC_000005.9:g.(?_1 80374484)_(1804424 28_?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 180,374,484 | 180,442,428 |