nsv4347291
- 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:1,553,744
- Description:GRCh37/hg19 2q35(chr2:218271898-219825640) 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: 3797 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 3797 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4347291 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 217,407,175 | 218,960,918 |
| nsv4347291 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 218,271,898 | 219,825,640 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605951 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000767784.1, VCV000625776.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605951 | Remapped | Perfect | NC_000002.12:g.(?_ 217407175)_(218960 918_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 217,407,175 | 218,960,918 |
| nssv15605951 | Submitted genomic | NC_000002.11:g.(?_ 218271898)_(219825 640_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 218,271,898 | 219,825,640 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605951 | GRCh37: NC_000002.11:g.(?_218271898)_(219825640_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV000767784.1, VCV000625776.1 |