nsv3921095
- 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:14,493,548
- Description:GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)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: 45229 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 45225 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 11924 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921095 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 70,414,573 | 84,908,120 |
| nsv3921095 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 70,448,476 | 84,941,726 |
| nsv3921095 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 69,005,977 | 83,499,227 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147241 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133814.5, VCV000144332.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147241 | Submitted genomic | NC_000016.10:g.(?_ 70414573)_(8490812 0_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 70,414,573 | 84,908,120 |
| nssv15147241 | Submitted genomic | NC_000016.9:g.(?_7 0448476)_(84941726 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 70,448,476 | 84,941,726 |
| nssv15147241 | Submitted genomic | NC_000016.8:g.(?_6 9005977)_(83499227 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 69,005,977 | 83,499,227 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147241 | GRCh37: NC_000016.9:g.(?_70448476)_(84941726_?)del, GRCh38: NC_000016.10:g.(?_70414573)_(84908120_?)del, NCBI36: NC_000016.8:g.(?_69005977)_(83499227_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133814.5, VCV000144332.2 | 1 |