nsv4675171
- 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:324,898
- Description:GRCh37/hg19 6p25.2(chr6:3409111-3734008)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: 1023 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1023 SVs from 71 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675171 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 3,408,877 | 3,733,774 |
| nsv4675171 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 3,409,111 | 3,734,008 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206803 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001005763.1, VCV000814776.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206803 | Remapped | Perfect | NC_000006.12:g.(?_ 3408877)_(3733774_ ?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 3,408,877 | 3,733,774 |
| nssv16206803 | Submitted genomic | NC_000006.11:g.(?_ 3409111)_(3734008_ ?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 3,409,111 | 3,734,008 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206803 | GRCh37: NC_000006.11:g.(?_3409111)_(3734008_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001005763.1, VCV000814776.1 | 3 |