nsv3922899
- 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:6,060,706
- Description:GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)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: 15480 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 15480 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 3644 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922899 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 14,061,129 | 20,121,834 |
| nsv3922899 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 14,062,753 | 20,123,457 |
| nsv3922899 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 13,671,851 | 19,732,555 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132377 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051220.5, VCV000057509.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132377 | Submitted genomic | NC_000004.12:g.(?_ 14061129)_(2012183 4_?)del | GRCh38 (hg38) | NC_000004.12 | Chr4 | 14,061,129 | 20,121,834 |
| nssv15132377 | Submitted genomic | NC_000004.11:g.(?_ 14062753)_(2012345 7_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 14,062,753 | 20,123,457 |
| nssv15132377 | Submitted genomic | NC_000004.10:g.(?_ 13671851)_(1973255 5_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 13,671,851 | 19,732,555 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132377 | GRCh37: NC_000004.11:g.(?_14062753)_(20123457_?)del, GRCh38: NC_000004.12:g.(?_14061129)_(20121834_?)del, NCBI36: NC_000004.10:g.(?_13671851)_(19732555_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051220.5, VCV000057509.1 | 1 |