nsv3924836
- 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:3,285,983
- Description:GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)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: 12138 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 12140 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 2771 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924836 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 44,971,420 | 48,257,402 |
| nsv3924836 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 45,474,677 | 48,760,659 |
| nsv3924836 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 50,166,517 | 53,452,471 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146698 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000136578.5, VCV000147383.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146698 | Submitted genomic | NC_000019.10:g.(?_ 44971420)_(4825740 2_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 44,971,420 | 48,257,402 |
| nssv15146698 | Submitted genomic | NC_000019.9:g.(?_4 5474677)_(48760659 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 45,474,677 | 48,760,659 |
| nssv15146698 | Submitted genomic | NC_000019.8:g.(?_5 0166517)_(53452471 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 50,166,517 | 53,452,471 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146698 | GRCh37: NC_000019.9:g.(?_45474677)_(48760659_?)dup, GRCh38: NC_000019.10:g.(?_44971420)_(48257402_?)dup, NCBI36: NC_000019.8:g.(?_50166517)_(53452471_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000136578.5, VCV000147383.2 | 3 |