nsv3910918
- 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:655,893
- Description:GRCh38/hg38 19p13.12(chr19:14477761-15133653)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: 2946 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2946 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 853 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910918 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 14,477,761 | 15,133,653 |
| nsv3910918 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 14,588,573 | 15,244,464 |
| nsv3910918 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 14,449,573 | 15,105,464 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133302 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000133793.4, VCV000144311.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133302 | Submitted genomic | NC_000019.10:g.(?_ 14477761)_(1513365 3_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 14,477,761 | 15,133,653 |
| nssv15133302 | Submitted genomic | NC_000019.9:g.(?_1 4588573)_(15244464 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 14,588,573 | 15,244,464 |
| nssv15133302 | Submitted genomic | NC_000019.8:g.(?_1 4449573)_(15105464 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 14,449,573 | 15,105,464 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133302 | GRCh37: NC_000019.9:g.(?_14588573)_(15244464_?)dup, GRCh38: NC_000019.10:g.(?_14477761)_(15133653_?)dup, NCBI36: NC_000019.8:g.(?_14449573)_(15105464_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000133793.4, VCV000144311.2 | 3 |