nsv3918983
- 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:2,391,660
- Description:GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)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: 9521 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 9522 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 1962 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3918983 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 46,658,791 | 49,050,450 |
| nsv3918983 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 47,162,048 | 49,553,707 |
| nsv3918983 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 51,853,888 | 54,245,519 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119870 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052913.4, VCV000059115.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119870 | Submitted genomic | NC_000019.10:g.(?_ 46658791)_(4905045 0_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 46,658,791 | 49,050,450 |
| nssv15119870 | Submitted genomic | NC_000019.9:g.(?_4 7162048)_(49553707 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 47,162,048 | 49,553,707 |
| nssv15119870 | Submitted genomic | NC_000019.8:g.(?_5 1853888)_(54245519 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 51,853,888 | 54,245,519 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119870 | GRCh37: NC_000019.9:g.(?_47162048)_(49553707_?)dup, GRCh38: NC_000019.10:g.(?_46658791)_(49050450_?)dup, NCBI36: NC_000019.8:g.(?_51853888)_(54245519_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052913.4, VCV000059115.1 | 3 |