nsv6290366
- 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:5,075,558
- Description:GRCh37/hg19 1p21.2-21.1(chr1:100215607-105368230)x1 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: 15131 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 15042 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290366 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 99,750,051 | 104,825,608 |
| nsv6290366 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 100,215,607 | 105,368,230 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957138 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001834415.1, VCV001341033.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957138 | Remapped | Good | NC_000001.11:g.(?_ 99750051)_(1048256 08_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 99,750,051 | 104,825,608 |
| nssv17957138 | Submitted genomic | NC_000001.10:g.(?_ 100215607)_(105368 230_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 100,215,607 | 105,368,230 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957138 | GRCh37: NC_000001.10:g.(?_100215607)_(105368230_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001834415.1, VCV001341033.1 | 1 |