nsv3897261
- 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:5,440,614
- Description:GRCh38/hg38 1q23.3-24.2(chr1:162040050-167480663)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: 12107 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 12106 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 3250 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3897261 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 162,040,050 | 167,480,663 |
| nsv3897261 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 162,009,840 | 167,449,900 |
| nsv3897261 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 160,276,464 | 165,716,524 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131776 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053915.5, VCV000060043.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131776 | Submitted genomic | NC_000001.11:g.(?_ 162040050)_(167480 663_?)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 162,040,050 | 167,480,663 |
| nssv15131776 | Submitted genomic | NC_000001.10:g.(?_ 162009840)_(167449 900_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 162,009,840 | 167,449,900 |
| nssv15131776 | Submitted genomic | NC_000001.9:g.(?_1 60276464)_(1657165 24_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 160,276,464 | 165,716,524 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131776 | GRCh37: NC_000001.10:g.(?_162009840)_(167449900_?)del, GRCh38: NC_000001.11:g.(?_162040050)_(167480663_?)del, NCBI36: NC_000001.9:g.(?_160276464)_(165716524_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053915.5, VCV000060043.1 | 1 |