nsv3917177
- 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:3,896,513
- Description:GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)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: 8614 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 8615 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 2408 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917177 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 49,570,553 | 53,467,065 |
| nsv3917177 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 49,604,464 | 53,500,977 |
| nsv3917177 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 48,161,965 | 52,058,478 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135959 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137722.4, VCV000148654.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135959 | Submitted genomic | NC_000016.10:g.(?_ 49570553)_(5346706 5_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 49,570,553 | 53,467,065 |
| nssv15135959 | Submitted genomic | NC_000016.9:g.(?_4 9604464)_(53500977 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 49,604,464 | 53,500,977 |
| nssv15135959 | Submitted genomic | NC_000016.8:g.(?_4 8161965)_(52058478 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 48,161,965 | 52,058,478 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135959 | GRCh37: NC_000016.9:g.(?_49604464)_(53500977_?)del, GRCh38: NC_000016.10:g.(?_49570553)_(53467065_?)del, NCBI36: NC_000016.8:g.(?_48161965)_(52058478_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137722.4, VCV000148654.2 | 1 |