nsv3905829
- 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:1,540,071
- Description:GRCh38/hg38 1p34.3-34.2(chr1:39360747-40900817)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: 4193 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 4193 SVs from 106 studies. See in: genome view
Overlapping variant regions from other studies: 962 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905829 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 39,360,747 | 40,900,817 |
| nsv3905829 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 39,826,419 | 41,366,489 |
| nsv3905829 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 39,599,006 | 41,139,076 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145714 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051815.4, VCV000058072.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145714 | Submitted genomic | NC_000001.11:g.(?_ 39360747)_(4090081 7_?)dup | GRCh38 (hg38) | NC_000001.11 | Chr1 | 39,360,747 | 40,900,817 |
| nssv15145714 | Submitted genomic | NC_000001.10:g.(?_ 39826419)_(4136648 9_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 39,826,419 | 41,366,489 |
| nssv15145714 | Submitted genomic | NC_000001.9:g.(?_3 9599006)_(41139076 _?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 39,599,006 | 41,139,076 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145714 | GRCh37: NC_000001.10:g.(?_39826419)_(41366489_?)dup, GRCh38: NC_000001.11:g.(?_39360747)_(40900817_?)dup, NCBI36: NC_000001.9:g.(?_39599006)_(41139076_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051815.4, VCV000058072.1 | 3 |