nsv3911950
- 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:10,631,426
- Description:GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)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: 47153 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 45051 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 11385 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911950 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 47,908,540 | 58,539,965 |
| nsv3911950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 48,411,797 | 59,051,332 |
| nsv3911950 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 53,103,609 | 63,743,144 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146445 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052914.5, VCV000059116.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146445 | Submitted genomic | NC_000019.10:g.(?_ 47908540)_(5853996 5_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 47,908,540 | 58,539,965 |
| nssv15146445 | Submitted genomic | NC_000019.9:g.(?_4 8411797)_(59051332 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 48,411,797 | 59,051,332 |
| nssv15146445 | Submitted genomic | NC_000019.8:g.(?_5 3103609)_(63743144 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 53,103,609 | 63,743,144 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146445 | GRCh37: NC_000019.9:g.(?_48411797)_(59051332_?)dup, GRCh38: NC_000019.10:g.(?_47908540)_(58539965_?)dup, NCBI36: NC_000019.8:g.(?_53103609)_(63743144_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052914.5, VCV000059116.1 | 3 |