nsv3916542
- 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:8,384,146
- Description:GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)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: 22346 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 22345 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 6218 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916542 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 55,457,477 | 63,841,622 |
| nsv3916542 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 55,491,389 | 63,875,526 |
| nsv3916542 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 54,048,890 | 62,433,027 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131864 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000133738.5, VCV000144256.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15131864 | Submitted genomic | NC_000016.10:g.(?_ 55457477)_(6384162 2_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 55,457,477 | 63,841,622 |
| nssv15131864 | Submitted genomic | NC_000016.9:g.(?_5 5491389)_(63875526 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 55,491,389 | 63,875,526 |
| nssv15131864 | Submitted genomic | NC_000016.8:g.(?_5 4048890)_(62433027 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 54,048,890 | 62,433,027 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15131864 | GRCh37: NC_000016.9:g.(?_55491389)_(63875526_?)del, GRCh38: NC_000016.10:g.(?_55457477)_(63841622_?)del, NCBI36: NC_000016.8:g.(?_54048890)_(62433027_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000133738.5, VCV000144256.2 | 1 |