nsv6636962
- 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:697,944
- Description:GRCh37/hg19 4q21.23(chr4:84142481-84840424)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: 2079 SVs from 81 studies. See in: genome view
Overlapping variant regions from other studies: 2079 SVs from 81 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636962 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 83,221,328 | 83,919,271 |
| nsv6636962 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 84,142,481 | 84,840,424 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329927 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473659.1, VCV001808342.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329927 | Remapped | Perfect | NC_000004.12:g.(?_ 83221328)_(8391927 1_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 83,221,328 | 83,919,271 |
| nssv18329927 | Submitted genomic | NC_000004.11:g.(?_ 84142481)_(8484042 4_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 84,142,481 | 84,840,424 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329927 | GRCh37: NC_000004.11:g.(?_84142481)_(84840424_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473659.1, VCV001808342.1 | 3 |