nsv3907483
- 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:5,316,001
- Description:GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)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: 14877 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 14851 SVs from 107 studies. See in: genome view
Overlapping variant regions from other studies: 2906 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 |
|---|---|---|---|---|---|---|---|
| nsv3907483 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 26,963,045 | 32,279,045 |
| nsv3907483 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 27,289,536 | 32,744,646 |
| nsv3907483 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 27,162,123 | 32,517,233 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145713 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051801.6, VCV000058058.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145713 | Submitted genomic | NC_000001.11:g.(?_ 26963045)_(3227904 5_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 26,963,045 | 32,279,045 |
| nssv15145713 | Submitted genomic | NC_000001.10:g.(?_ 27289536)_(3274464 6_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 27,289,536 | 32,744,646 |
| nssv15145713 | Submitted genomic | NC_000001.9:g.(?_2 7162123)_(32517233 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 27,162,123 | 32,517,233 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145713 | GRCh37: NC_000001.10:g.(?_27289536)_(32744646_?)dup, GRCh38: NC_000001.11:g.(?_26963045)_(32279045_?)dup, NCBI36: NC_000001.9:g.(?_27162123)_(32517233_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051801.6, VCV000058058.1 | 3 |