nsv3909026
- 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:934,927
- Description:GRCh37/hg19 17q12(chr17:31982779-32917705)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: 2171 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2171 SVs from 83 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3909026 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 33,655,760 | 34,590,686 |
nsv3909026 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 31,982,779 | 32,917,705 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15140252 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000449299.3, VCV000394456.3 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15140252 | Remapped | Perfect | NC_000017.11:g.(?_ 33655760)_(3459068 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 33,655,760 | 34,590,686 |
nssv15140252 | Submitted genomic | NC_000017.10:g.(?_ 31982779)_(3291770 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 31,982,779 | 32,917,705 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15140252 | GRCh37: NC_000017.10:g.(?_31982779)_(32917705_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000449299.3, VCV000394456.3 | 3 |