nsv3918040
- 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:211,271
- Description:GRCh38/hg38 16p11.2(chr16:30359229-30570499)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: 738 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 738 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 157 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918040 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 30,359,229 | 30,570,499 |
| nsv3918040 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 30,370,550 | 30,581,820 |
| nsv3918040 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 30,278,051 | 30,489,321 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120758 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000053863.4, VCV000059991.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120758 | Submitted genomic | NC_000016.10:g.(?_ 30359229)_(3057049 9_?)dup | GRCh38 (hg38) | NC_000016.10 | Chr16 | 30,359,229 | 30,570,499 |
| nssv15120758 | Submitted genomic | NC_000016.9:g.(?_3 0370550)_(30581820 _?)dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 30,370,550 | 30,581,820 |
| nssv15120758 | Submitted genomic | NC_000016.8:g.(?_3 0278051)_(30489321 _?)dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 30,278,051 | 30,489,321 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120758 | GRCh37: NC_000016.9:g.(?_30370550)_(30581820_?)dup, GRCh38: NC_000016.10:g.(?_30359229)_(30570499_?)dup, NCBI36: NC_000016.8:g.(?_30278051)_(30489321_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000053863.4, VCV000059991.1 | 3 |