nsv3892349
- 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:212,562
- Description:GRCh37/hg19 17p13.3(chr17:2336350-2548911)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 974 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 974 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3892349 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 2,433,056 | 2,645,617 |
nsv3892349 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 2,336,350 | 2,548,911 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15151239 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000512064.2, VCV000442746.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15151239 | Remapped | Perfect | NC_000017.11:g.(?_ 2433056)_(2645617_ ?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 2,433,056 | 2,645,617 |
nssv15151239 | Submitted genomic | NC_000017.10:g.(?_ 2336350)_(2548911_ ?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 2,336,350 | 2,548,911 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15151239 | GRCh37: NC_000017.10:g.(?_2336350)_(2548911_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000512064.2, VCV000442746.2 | 3 |