nsv3913248
- 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:6,859,132
- Description:GRCh38/hg38 4q13.1-13.3(chr4:65454562-72313693)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: 21761 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 21761 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 6494 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913248 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 65,454,562 | 72,313,693 |
| nsv3913248 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 66,320,280 | 73,179,410 |
| nsv3913248 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 66,002,875 | 73,398,274 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132956 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053293.4, VCV000059451.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132956 | Submitted genomic | NC_000004.12:g.(?_ 65454562)_(7231369 3_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 65,454,562 | 72,313,693 |
| nssv15132956 | Submitted genomic | NC_000004.11:g.(?_ 66320280)_(7317941 0_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 66,320,280 | 73,179,410 |
| nssv15132956 | Submitted genomic | NC_000004.10:g.(?_ 66002875)_(7339827 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 66,002,875 | 73,398,274 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132956 | GRCh37: NC_000004.11:g.(?_66320280)_(73179410_?)del, GRCh38: NC_000004.12:g.(?_65454562)_(72313693_?)del, NCBI36: NC_000004.10:g.(?_66002875)_(73398274_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053293.4, VCV000059451.1 | 1 |