nsv3921024
- 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:8,926,502
- Description:GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)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: 26416 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 26417 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 7342 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921024 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 35,068,276 | 43,994,777 |
| nsv3921024 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 35,537,482 | 44,463,980 |
| nsv3921024 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 34,607,233 | 43,533,730 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134591 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137841.4, VCV000148775.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134591 | Submitted genomic | NC_000014.9:g.(?_3 5068276)_(43994777 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 35,068,276 | 43,994,777 |
| nssv15134591 | Submitted genomic | NC_000014.8:g.(?_3 5537482)_(44463980 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 35,537,482 | 44,463,980 |
| nssv15134591 | Submitted genomic | NC_000014.7:g.(?_3 4607233)_(43533730 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 34,607,233 | 43,533,730 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134591 | GRCh37: NC_000014.8:g.(?_35537482)_(44463980_?)del, GRCh38: NC_000014.9:g.(?_35068276)_(43994777_?)del, NCBI36: NC_000014.7:g.(?_34607233)_(43533730_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137841.4, VCV000148775.2 | 1 |