nsv7095589
- 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:14,654
- Description:NC_000001.10:g.(?_22403357)_(22418010_?)dup 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: 123 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 39 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7095589 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 22,076,864 | 22,091,517 |
nsv7095589 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 22,403,357 | 22,418,010 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18792022 | duplication | Multiple | Multiple | not provided | Likely benign | ClinVar | RCV003107469.2, VCV002424236.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18792022 | Remapped | Perfect | NC_000001.11:g.(?_ 22076864)_(2209151 7_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 22,076,864 | 22,091,517 |
nssv18792022 | Submitted genomic | NC_000001.10:g.(?_ 22403357)_(2241801 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 22,403,357 | 22,418,010 |
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 |
---|---|---|---|---|---|---|---|
nssv18792022 | GRCh37: NC_000001.10:g.(?_22403357)_(22418010_?)dup | duplication | germline | not provided | Likely benign | ClinVar | RCV003107469.2, VCV002424236.2 |