nsv3915561
- 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:41,211
- Description:GRCh38/hg38 14q13.2(chr14:35109816-35151026)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: 424 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 424 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 205 SVs from 19 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3915561 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 35,109,816 | 35,151,026 |
nsv3915561 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 35,579,022 | 35,620,232 |
nsv3915561 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 34,648,773 | 34,689,983 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15137859 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000142699.4, VCV000154632.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15137859 | Submitted genomic | NC_000014.9:g.(?_3 5109816)_(35151026 _?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 35,109,816 | 35,151,026 |
nssv15137859 | Submitted genomic | NC_000014.8:g.(?_3 5579022)_(35620232 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 35,579,022 | 35,620,232 |
nssv15137859 | Submitted genomic | NC_000014.7:g.(?_3 4648773)_(34689983 _?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 34,648,773 | 34,689,983 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15137859 | GRCh37: NC_000014.8:g.(?_35579022)_(35620232_?)del, GRCh38: NC_000014.9:g.(?_35109816)_(35151026_?)del, NCBI36: NC_000014.7:g.(?_34648773)_(34689983_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000142699.4, VCV000154632.2 | 1 |