nsv3901163
- 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:17,020,312
- Description:GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 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: 44828 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 44852 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 9828 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3901163 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 24,381,206 | 41,401,517 |
| nsv3901163 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 24,707,696 | 41,886,350 |
| nsv3901163 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 24,580,283 | 41,658,937 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147472 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000138891.6, VCV000149963.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147472 | Submitted genomic | NC_000001.11:g.(?_ 24381206)_(4140151 7_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 24,381,206 | 41,401,517 |
| nssv15147472 | Submitted genomic | NC_000001.10:g.(?_ 24707696)_(4188635 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 24,707,696 | 41,886,350 |
| nssv15147472 | Submitted genomic | NC_000001.9:g.(?_2 4580283)_(41658937 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 24,580,283 | 41,658,937 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147472 | GRCh37: NC_000001.10:g.(?_24707696)_(41886350_?)dup, GRCh38: NC_000001.11:g.(?_24381206)_(41401517_?)dup, NCBI36: NC_000001.9:g.(?_24580283)_(41658937_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000138891.6, VCV000149963.2 | 3 |