nsv3916862
- 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:298,823
- Description:GRCh38/hg38 16p13.3(chr16:6253203-6552025)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: 1050 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1050 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 289 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 |
|---|---|---|---|---|---|---|---|
| nsv3916862 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 6,253,203 | 6,552,025 |
| nsv3916862 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 6,303,204 | 6,602,026 |
| nsv3916862 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 6,243,205 | 6,542,027 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122303 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000141466.4, VCV000152967.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122303 | Submitted genomic | NC_000016.10:g.(?_ 6253203)_(6552025_ ?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 6,253,203 | 6,552,025 |
| nssv15122303 | Submitted genomic | NC_000016.9:g.(?_6 303204)_(6602026_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 6,303,204 | 6,602,026 |
| nssv15122303 | Submitted genomic | NC_000016.8:g.(?_6 243205)_(6542027_? )del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 6,243,205 | 6,542,027 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122303 | GRCh37: NC_000016.9:g.(?_6303204)_(6602026_?)del, GRCh38: NC_000016.10:g.(?_6253203)_(6552025_?)del, NCBI36: NC_000016.8:g.(?_6243205)_(6542027_?)del | copy number loss | maternal | See cases | Benign | ClinVar | RCV000141466.4, VCV000152967.2 | 1 |