nsv3921263
- 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:446,823
- Description:GRCh38/hg38 19q13.32(chr19:45287256-45734078)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: 1895 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1895 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 436 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 |
|---|---|---|---|---|---|---|---|
| nsv3921263 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000019.10 | Chr19 | 45,287,256 | 45,734,078 |
| nsv3921263 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 45,790,514 | 46,237,336 |
| nsv3921263 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000019.8 | Chr19 | 50,482,354 | 50,929,176 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146508 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000054152.5, VCV000060278.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146508 | Submitted genomic | NC_000019.10:g.(?_ 45287256)_(4573407 8_?)dup | GRCh38 (hg38) | NC_000019.10 | Chr19 | 45,287,256 | 45,734,078 |
| nssv15146508 | Submitted genomic | NC_000019.9:g.(?_4 5790514)_(46237336 _?)dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 45,790,514 | 46,237,336 |
| nssv15146508 | Submitted genomic | NC_000019.8:g.(?_5 0482354)_(50929176 _?)dup | NCBI36 (hg18) | NC_000019.8 | Chr19 | 50,482,354 | 50,929,176 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146508 | GRCh37: NC_000019.9:g.(?_45790514)_(46237336_?)dup, GRCh38: NC_000019.10:g.(?_45287256)_(45734078_?)dup, NCBI36: NC_000019.8:g.(?_50482354)_(50929176_?)dup | copy number gain | maternal | See cases | Uncertain significance | ClinVar | RCV000054152.5, VCV000060278.1 | 3 |