nsv3915014
- 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:17,401,594
- Description:GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)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: 58694 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 58632 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 15143 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 |
|---|---|---|---|---|---|---|---|
| nsv3915014 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 85,149 | 17,486,742 |
| nsv3915014 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 85,040 | 17,488,365 |
| nsv3915014 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 75,040 | 17,097,463 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146276 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051679.7, VCV000057937.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146276 | Submitted genomic | NC_000004.12:g.(?_ 85149)_(17486742_? )del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 85,149 | 17,486,742 |
| nssv15146276 | Submitted genomic | NC_000004.11:g.(?_ 85040)_(17488365_? )del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 85,040 | 17,488,365 |
| nssv15146276 | Submitted genomic | NC_000004.10:g.(?_ 75040)_(17097463_? )del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 75,040 | 17,097,463 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146276 | GRCh37: NC_000004.11:g.(?_85040)_(17488365_?)del, GRCh38: NC_000004.12:g.(?_85149)_(17486742_?)del, NCBI36: NC_000004.10:g.(?_75040)_(17097463_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051679.7, VCV000057937.2 | 1 |