nsv3918521
- 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:18,716,192
- Description:GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)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: 44862 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 44862 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 11635 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918521 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 49,685,521 | 68,401,712 |
| nsv3918521 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 49,719,432 | 68,435,615 |
| nsv3918521 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 48,276,933 | 66,993,116 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139966 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143752.5, VCV000155685.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139966 | Submitted genomic | NC_000016.10:g.(?_ 49685521)_(6840171 2_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 49,685,521 | 68,401,712 |
| nssv15139966 | Submitted genomic | NC_000016.9:g.(?_4 9719432)_(68435615 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 49,719,432 | 68,435,615 |
| nssv15139966 | Submitted genomic | NC_000016.8:g.(?_4 8276933)_(66993116 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 48,276,933 | 66,993,116 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139966 | GRCh37: NC_000016.9:g.(?_49719432)_(68435615_?)dup, GRCh38: NC_000016.10:g.(?_49685521)_(68401712_?)dup, NCBI36: NC_000016.8:g.(?_48276933)_(66993116_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143752.5, VCV000155685.2 | 3 |