nsv4673954
- 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:346,289
- Description:GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)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: 1177 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1107 SVs from 92 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673954 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 154,926,378 | 155,272,666 |
| nsv4673954 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 154,898,854 | 155,242,457 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206518 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005143.1, VCV000814131.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206518 | Remapped | Good | NC_000001.11:g.(?_ 154926378)_(155272 666_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 154,926,378 | 155,272,666 |
| nssv16206518 | Submitted genomic | NC_000001.10:g.(?_ 154898854)_(155242 457_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 154,898,854 | 155,242,457 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206518 | GRCh37: NC_000001.10:g.(?_154898854)_(155242457_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005143.1, VCV000814131.1 | 3 |