nsv4450507
- 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:401,613
- Description:GRCh37/hg19 1q42.3(chr1:235347794-235749391)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: 1551 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 555 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 1559 SVs from 80 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4450507 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 235,184,479 | 235,586,091 |
| nsv4450507 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_014040927.1 | Chr1|NW_01 4040927.1 | 1 | 212,205 |
| nsv4450507 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 235,347,794 | 235,749,391 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15774863 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000846499.2, VCV000685791.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15774863 | Remapped | Pass | NW_014040927.1:g.( ?_1)_(212205_?)dup | GRCh38.p12 | Second Pass | NW_014040927.1 | Chr1|NW_01 4040927.1 | 1 | 212,205 |
| nssv15774863 | Remapped | Good | NC_000001.11:g.(?_ 235184479)_(235586 091_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 235,184,479 | 235,586,091 |
| nssv15774863 | Submitted genomic | NC_000001.10:g.(?_ 235347794)_(235749 391_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 235,347,794 | 235,749,391 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15774863 | GRCh37: NC_000001.10:g.(?_235347794)_(235749391_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000846499.2, VCV000685791.2 | 3 |