nsv3913811
- 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:45,673,997
- Description:GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)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: 126958 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 126816 SVs from 143 studies. See in: genome view
Overlapping variant regions from other studies: 33204 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913811 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 51,831,622 | 97,505,618 |
| nsv3913811 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 52,697,788 | 98,426,769 |
| nsv3913811 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 52,392,545 | 98,645,792 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145710 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051772.5, VCV000058029.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145710 | Submitted genomic | NC_000004.12:g.(?_ 51831622)_(9750561 8_?)dup | GRCh38 (hg38) | NC_000004.12 | Chr4 | 51,831,622 | 97,505,618 |
| nssv15145710 | Submitted genomic | NC_000004.11:g.(?_ 52697788)_(9842676 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 52,697,788 | 98,426,769 |
| nssv15145710 | Submitted genomic | NC_000004.10:g.(?_ 52392545)_(9864579 2_?)dup | NCBI36 (hg18) | NC_000004.10 | Chr4 | 52,392,545 | 98,645,792 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145710 | GRCh37: NC_000004.11:g.(?_52697788)_(98426769_?)dup, GRCh38: NC_000004.12:g.(?_51831622)_(97505618_?)dup, NCBI36: NC_000004.10:g.(?_52392545)_(98645792_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000051772.5, VCV000058029.1 | 3 |