nsv3899474
- 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:1,010,905
- Description:GRCh37/hg19 17q21.31(chr17:42649083-43659985)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: 3597 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 3597 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3899474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 44,571,715 | 45,582,619 |
| nsv3899474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 42,649,083 | 43,659,985 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151842 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000512371.2, VCV000442257.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151842 | Remapped | Perfect | NC_000017.11:g.(?_ 44571715)_(4558261 9_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 44,571,715 | 45,582,619 |
| nssv15151842 | Submitted genomic | NC_000017.10:g.(?_ 42649083)_(4365998 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 42,649,083 | 43,659,985 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151842 | GRCh37: NC_000017.10:g.(?_42649083)_(43659985_?)dup | copy number gain | paternal | See cases | Uncertain significance | ClinVar | RCV000512371.2, VCV000442257.2 | 3 |