nsv3915094
- 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:2,619,747
- Description:GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)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: 9755 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 9755 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 2090 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915094 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 12,132,052 | 14,751,798 |
| nsv3915094 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 12,242,867 | 14,862,610 |
| nsv3915094 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 12,103,867 | 14,723,610 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132928 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052910.5, VCV000059112.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132928 | Submitted genomic | NC_000019.10:g.(?_ 12132052)_(1475179 8_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 12,132,052 | 14,751,798 |
| nssv15132928 | Submitted genomic | NC_000019.9:g.(?_1 2242867)_(14862610 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 12,242,867 | 14,862,610 |
| nssv15132928 | Submitted genomic | NC_000019.8:g.(?_1 2103867)_(14723610 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 12,103,867 | 14,723,610 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132928 | GRCh37: NC_000019.9:g.(?_12242867)_(14862610_?)dup, GRCh38: NC_000019.10:g.(?_12132052)_(14751798_?)dup, NCBI36: NC_000019.8:g.(?_12103867)_(14723610_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052910.5, VCV000059112.1 | 3 |