nsv6637162
- 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:1,765,645
- Description:GRCh37/hg19 10q11.22(chr10:47062985-48769625)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 7163 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 5600 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637162 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 |
| nsv6637162 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 47,062,985 | 48,769,625 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329691 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472913.1, VCV001808107.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329691 | Remapped | Good | NC_000010.11:g.(?_ 46157935)_(4792357 9_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 46,157,935 | 47,923,579 |
| nssv18329691 | Submitted genomic | NC_000010.10:g.(?_ 47062985)_(4876962 5_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 47,062,985 | 48,769,625 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329691 | GRCh37: NC_000010.10:g.(?_47062985)_(48769625_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472913.1, VCV001808107.1 | 3 |