nsv3910745
- 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:3,750,737
- Description:GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)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: 8280 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 8280 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1605 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910745 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 64,311,275 | 68,062,011 |
| nsv3910745 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 64,345,179 | 68,095,914 |
| nsv3910745 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 62,902,680 | 66,653,415 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120728 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053335.4, VCV000059493.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120728 | Submitted genomic | NC_000016.10:g.(?_ 64311275)_(6806201 1_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 64,311,275 | 68,062,011 |
| nssv15120728 | Submitted genomic | NC_000016.9:g.(?_6 4345179)_(68095914 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 64,345,179 | 68,095,914 |
| nssv15120728 | Submitted genomic | NC_000016.8:g.(?_6 2902680)_(66653415 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 62,902,680 | 66,653,415 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120728 | GRCh37: NC_000016.9:g.(?_64345179)_(68095914_?)del, GRCh38: NC_000016.10:g.(?_64311275)_(68062011_?)del, NCBI36: NC_000016.8:g.(?_62902680)_(66653415_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053335.4, VCV000059493.1 | 1 |