nsv6636207
- 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:332,149
- Description:GRCh37/hg19 4q13.3(chr4:71643631-71975779)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: 1088 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1088 SVs from 77 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6636207 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 70,777,914 | 71,110,062 |
| nsv6636207 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 71,643,631 | 71,975,779 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329804 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002473536.1, VCV001808219.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329804 | Remapped | Perfect | NC_000004.12:g.(?_ 70777914)_(7111006 2_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 70,777,914 | 71,110,062 |
| nssv18329804 | Submitted genomic | NC_000004.11:g.(?_ 71643631)_(7197577 9_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 71,643,631 | 71,975,779 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329804 | GRCh37: NC_000004.11:g.(?_71643631)_(71975779_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002473536.1, VCV001808219.1 | 3 |