nsv3918246
- 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:2,530,520
- Description:
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3 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: 15404 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 15406 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 4050 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918246 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 29,941 | 2,560,460 |
| nsv3918246 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 79,941 | 2,610,461 |
| nsv3918246 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 19,941 | 2,550,462 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147068 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052368.7, VCV000058595.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147068 | Submitted genomic | NC_000016.10:g.(?_ 29941)_(2560460_?) dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 29,941 | 2,560,460 |
| nssv15147068 | Submitted genomic | NC_000016.9:g.(?_7 9941)_(2610461_?)d up | GRCh37 (hg19) | NC_000016.9 | Chr16 | 79,941 | 2,610,461 |
| nssv15147068 | Submitted genomic | NC_000016.8:g.(?_1 9941)_(2550462_?)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 19,941 | 2,550,462 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147068 | GRCh37: NC_000016.9:g.(?_79941)_(2610461_?)dup, GRCh38: NC_000016.10:g.(?_29941)_(2560460_?)dup, NCBI36: NC_000016.8:g.(?_19941)_(2550462_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052368.7, VCV000058595.1 | 3 |