nsv3924732
- 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:8,650,058
- Description:GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)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: 39284 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 37182 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 9812 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 |
|---|---|---|---|---|---|---|---|
| nsv3924732 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 49,907,832 | 58,557,889 |
| nsv3924732 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 50,411,089 | 59,069,256 |
| nsv3924732 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 55,102,901 | 63,761,068 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147147 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052925.5, VCV000059126.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147147 | Submitted genomic | NC_000019.10:g.(?_ 49907832)_(5855788 9_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 49,907,832 | 58,557,889 |
| nssv15147147 | Submitted genomic | NC_000019.9:g.(?_5 0411089)_(59069256 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 50,411,089 | 59,069,256 |
| nssv15147147 | Submitted genomic | NC_000019.8:g.(?_5 5102901)_(63761068 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 55,102,901 | 63,761,068 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147147 | GRCh37: NC_000019.9:g.(?_50411089)_(59069256_?)dup, GRCh38: NC_000019.10:g.(?_49907832)_(58557889_?)dup, NCBI36: NC_000019.8:g.(?_55102901)_(63761068_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000052925.5, VCV000059126.1 | 3 |