nsv6310858
- 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:1,583,435
- Description:NC_000001.10:g.(?_225591005)_(227174438_?)dup 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: 4288 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 4290 SVs from 98 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6310858 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 225,403,303 | 226,986,737 |
| nsv6310858 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 225,591,005 | 227,174,438 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17974979 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001928108.3, VCV001410588.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17974979 | Remapped | Perfect | NC_000001.11:g.(?_ 225403303)_(226986 737_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,403,303 | 226,986,737 |
| nssv17974979 | Submitted genomic | NC_000001.10:g.(?_ 225591005)_(227174 438_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 225,591,005 | 227,174,438 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17974979 | GRCh37: NC_000001.10:g.(?_225591005)_(227174438_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV001928108.3, VCV001410588.3 |