nsv3908738
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:81,496
- Description:GRCh37/hg19 19q13.2(chr19:40194966-40276461)x1 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: 342 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 114 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 342 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3908738 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 39,704,326 | 39,785,821 |
| nsv3908738 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 1 | 45,697 |
| nsv3908738 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 40,194,966 | 40,276,461 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15140225 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000449190.3, VCV000395315.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15140225 | Remapped | Pass | NW_009646206.1:g.( ?_1)_(45697_?)del | GRCh38.p12 | Second Pass | NW_009646206.1 | Chr19|NW_0 09646206.1 | 1 | 45,697 |
| nssv15140225 | Remapped | Perfect | NC_000019.10:g.(?_ 39704326)_(3978582 1_?)del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 39,704,326 | 39,785,821 |
| nssv15140225 | Submitted genomic | NC_000019.9:g.(?_4 0194966)_(40276461 _?)del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 40,194,966 | 40,276,461 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15140225 | GRCh37: NC_000019.9:g.(?_40194966)_(40276461_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000449190.3, VCV000395315.3 | 1 |