nsv3915603
- 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:5,627,664
- Description:GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)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: 12858 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 12858 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 3278 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915603 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 137,991,123 | 143,618,786 |
| nsv3915603 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 137,709,965 | 143,337,628 |
| nsv3915603 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 139,192,655 | 144,820,318 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136670 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139135.6, VCV000150251.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136670 | Submitted genomic | NC_000003.12:g.(?_ 137991123)_(143618 786_?)del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 137,991,123 | 143,618,786 |
| nssv15136670 | Submitted genomic | NC_000003.11:g.(?_ 137709965)_(143337 628_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 137,709,965 | 143,337,628 |
| nssv15136670 | Submitted genomic | NC_000003.10:g.(?_ 139192655)_(144820 318_?)del | NCBI36 (hg18) | NC_000003.10 | Chr3 | 139,192,655 | 144,820,318 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136670 | GRCh37: NC_000003.11:g.(?_137709965)_(143337628_?)del, GRCh38: NC_000003.12:g.(?_137991123)_(143618786_?)del, NCBI36: NC_000003.10:g.(?_139192655)_(144820318_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139135.6, VCV000150251.2 | 1 |