nsv6315400
- 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:386,536
- Description:
GRCh37/hg19 6q21(chr6:110720327-111091182)x3 AND Seizure
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 998 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 999 SVs from 69 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6315400 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 110,392,504 | 110,399,124 | 110,769,979 | 110,779,039 |
| nsv6315400 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 110,713,707 | 110,720,327 | 111,091,182 | 111,100,242 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17977062 | copy number gain | Multiple | Multiple | Seizure; Seizures | Uncertain significance | ClinVar | RCV002284260.1, VCV001705886.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17977062 | Remapped | Perfect | NC_000006.12:g.(11 0392504_110399124) _(110769979_110779 039)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 110,392,504 | 110,399,124 | 110,769,979 | 110,779,039 |
| nssv17977062 | Submitted genomic | NC_000006.11:g.(11 0713707_110720327) _(111091182_111100 242)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 110,713,707 | 110,720,327 | 111,091,182 | 111,100,242 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17977062 | GRCh37: NC_000006.11:g.(110713707_110720327)_(111091182_111100242)dup | copy number gain | unknown | Seizure; Seizures | Uncertain significance | ClinVar | RCV002284260.1, VCV001705886.1 | 3 |