nsv7097275
- 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:186,210
- Description:NC_000005.9:g.(?_37184870)_(37371079_?)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: 843 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 843 SVs from 66 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7097275 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 37,184,768 | 37,370,977 |
nsv7097275 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 37,184,870 | 37,371,079 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18787622 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003122623.2, VCV002426790.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18787622 | Remapped | Perfect | NC_000005.10:g.(?_ 37184768)_(3737097 7_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 37,184,768 | 37,370,977 |
nssv18787622 | Submitted genomic | NC_000005.9:g.(?_3 7184870)_(37371079 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 37,184,870 | 37,371,079 |
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 |
---|---|---|---|---|---|---|---|
nssv18787622 | GRCh37: NC_000005.9:g.(?_37184870)_(37371079_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003122623.2, VCV002426790.2 |