nsv4368940
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:42,739
- 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: 1260 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 1260 SVs from 89 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4368940 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nsv4368940 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv15613150 | copy number loss | 1-0677-001 | SNP array | Genotyping | 26 |
nssv15615459 | copy number loss | 1-0774-003 | SNP array | Genotyping | 21 |
nssv15623083 | copy number loss | 1-1052-003 | SNP array | Genotyping | 23 |
nssv15626426 | copy number loss | 1-0439-002 | SNP array | Genotyping | 14 |
nssv15628378 | copy number loss | 1-0517-008 | SNP array | Genotyping | 19 |
nssv15628435 | copy number loss | 1-0517-009 | SNP array | Genotyping | 17 |
nssv15632066 | copy number loss | 10-0009-002 | SNP array | Genotyping | 21 |
nssv15658263 | copy number loss | 4-0026-001 | SNP array | Genotyping | 17 |
nssv15664759 | copy number loss | 5-0008-001 | SNP array | Genotyping | 22 |
nssv15697015 | copy number loss | 127819 | SNP array | Genotyping | 19 |
nssv15700573 | copy number loss | 158448 | SNP array | Genotyping | 23 |
nssv15700992 | copy number loss | 178904 | SNP array | Genotyping | 18 |
nssv15701760 | copy number loss | 183055 | SNP array | Genotyping | 21 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15613150 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15615459 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15623083 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15626426 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15628378 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15628435 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15632066 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15658263 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15664759 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15697015 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15700573 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15700992 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15701760 | Remapped | Perfect | NC_000005.10:g.(?_ 17602503)_(1764524 1_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 17,602,503 | 17,645,241 |
nssv15613150 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15615459 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15623083 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15626426 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15628378 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15628435 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15632066 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15658263 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15664759 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15697015 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15700573 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15700992 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 | ||
nssv15701760 | Submitted genomic | NC_000005.9:g.(?_1 7602612)_(17645350 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 17,602,612 | 17,645,350 |