nsv4452342
- 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:881,631
- Description:GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)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: 2330 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 2335 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4452342 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 155,800,714 | 156,682,344 |
| nsv4452342 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 155,770,505 | 156,652,136 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15773020 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848811.2, VCV000688120.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15773020 | Remapped | Perfect | NC_000001.11:g.(?_ 155800714)_(156682 344_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 155,800,714 | 156,682,344 |
| nssv15773020 | Submitted genomic | NC_000001.10:g.(?_ 155770505)_(156652 136_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 155,770,505 | 156,652,136 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15773020 | GRCh37: NC_000001.10:g.(?_155770505)_(156652136_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848811.2, VCV000688120.2 | 3 |