nsv3891330
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:10,287,504
- Description:GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 23383 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 23384 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 6422 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3891330 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 58,819,605 | 69,107,108 |
| nsv3891330 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 59,285,277 | 69,572,791 |
| nsv3891330 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 59,057,865 | 69,345,379 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147256 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134142.5, VCV000144714.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147256 | Submitted genomic | NC_000001.11:g.(?_ 58819605)_(6910710 8_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 58,819,605 | 69,107,108 |
| nssv15147256 | Submitted genomic | NC_000001.10:g.(?_ 59285277)_(6957279 1_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 59,285,277 | 69,572,791 |
| nssv15147256 | Submitted genomic | NC_000001.9:g.(?_5 9057865)_(69345379 _?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 59,057,865 | 69,345,379 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147256 | GRCh37: NC_000001.10:g.(?_59285277)_(69572791_?)del, GRCh38: NC_000001.11:g.(?_58819605)_(69107108_?)del, NCBI36: NC_000001.9:g.(?_59057865)_(69345379_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000134142.5, VCV000144714.2 | 1 |