nsv3924184
- 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:261,392
- Description:GRCh38/hg38 19q13.33(chr19:48577651-48839042)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: 1372 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1372 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 256 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3924184 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 48,577,651 | 48,839,042 |
| nsv3924184 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 49,080,908 | 49,342,299 |
| nsv3924184 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 53,772,720 | 54,034,111 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134198 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000135686.4, VCV000146386.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134198 | Submitted genomic | NC_000019.10:g.(?_ 48577651)_(4883904 2_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 48,577,651 | 48,839,042 |
| nssv15134198 | Submitted genomic | NC_000019.9:g.(?_4 9080908)_(49342299 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 49,080,908 | 49,342,299 |
| nssv15134198 | Submitted genomic | NC_000019.8:g.(?_5 3772720)_(54034111 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 53,772,720 | 54,034,111 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134198 | GRCh37: NC_000019.9:g.(?_49080908)_(49342299_?)dup, GRCh38: NC_000019.10:g.(?_48577651)_(48839042_?)dup, NCBI36: NC_000019.8:g.(?_53772720)_(54034111_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000135686.4, VCV000146386.2 | 3 |