nsv3894431
- 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:12,224,248
- Description:GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)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: 26954 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 26950 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 7302 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 |
|---|---|---|---|---|---|---|---|
| nsv3894431 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 161,740,907 | 173,965,154 |
| nsv3894431 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 161,710,697 | 173,934,292 |
| nsv3894431 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 159,977,321 | 172,200,915 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131775 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053914.5, VCV000060042.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131775 | Submitted genomic | NC_000001.11:g.(?_ 161740907)_(173965 154_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 161,740,907 | 173,965,154 |
| nssv15131775 | Submitted genomic | NC_000001.10:g.(?_ 161710697)_(173934 292_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 161,710,697 | 173,934,292 |
| nssv15131775 | Submitted genomic | NC_000001.9:g.(?_1 59977321)_(1722009 15_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 159,977,321 | 172,200,915 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131775 | GRCh37: NC_000001.10:g.(?_161710697)_(173934292_?)del, GRCh38: NC_000001.11:g.(?_161740907)_(173965154_?)del, NCBI36: NC_000001.9:g.(?_159977321)_(172200915_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053914.5, VCV000060042.1 | 1 |