nsv3891532
- 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:5,946,021
- Description:GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)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: 20008 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 20251 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 5299 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3891532 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 7,165,036 | 13,111,056 |
| nsv3891532 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 7,225,096 | 13,178,528 |
| nsv3891532 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 7,147,683 | 13,101,115 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147185 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053755.5, VCV000059884.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147185 | Submitted genomic | NC_000001.11:g.(?_ 7165036)_(13111056 _?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 7,165,036 | 13,111,056 |
| nssv15147185 | Submitted genomic | NC_000001.10:g.(?_ 7225096)_(13178528 _?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 7,225,096 | 13,178,528 |
| nssv15147185 | Submitted genomic | NC_000001.9:g.(?_7 147683)_(13101115_ ?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 7,147,683 | 13,101,115 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147185 | GRCh37: NC_000001.10:g.(?_7225096)_(13178528_?)del, GRCh38: NC_000001.11:g.(?_7165036)_(13111056_?)del, NCBI36: NC_000001.9:g.(?_7147683)_(13101115_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053755.5, VCV000059884.1 | 1 |