nsv4674068
- 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:859,711
- Description:GRCh37/hg19 1q42.12(chr1:226064744-226924455)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: 2276 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 2278 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674068 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 225,877,044 | 226,736,754 |
| nsv4674068 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 226,064,744 | 226,924,455 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206535 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005183.1, VCV000814171.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206535 | Remapped | Perfect | NC_000001.11:g.(?_ 225877044)_(226736 754_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 225,877,044 | 226,736,754 |
| nssv16206535 | Submitted genomic | NC_000001.10:g.(?_ 226064744)_(226924 455_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 226,064,744 | 226,924,455 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206535 | GRCh37: NC_000001.10:g.(?_226064744)_(226924455_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005183.1, VCV000814171.1 | 3 |