nsv6637038
- 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:1,220,266
- Description:GRCh37/hg19 4q13.2(chr4:67729321-68949586)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: 3304 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3304 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637038 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 66,863,603 | 68,083,868 |
| nsv6637038 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 67,729,321 | 68,949,586 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330882 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472743.1, VCV001807937.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330882 | Remapped | Perfect | NC_000004.12:g.(?_ 66863603)_(6808386 8_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 66,863,603 | 68,083,868 |
| nssv18330882 | Submitted genomic | NC_000004.11:g.(?_ 67729321)_(6894958 6_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 67,729,321 | 68,949,586 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330882 | GRCh37: NC_000004.11:g.(?_67729321)_(68949586_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472743.1, VCV001807937.1 | 3 |