nsv3915580
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:263,007
- Description:NCBI36/hg18 6p22.1(chr6:28534378-28756069)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: 653 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 653 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 191 SVs from 12 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3915580 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 28,440,867 | 28,458,622 | 28,680,313 | 28,703,873 |
nsv3915580 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 28,408,644 | 28,426,399 | 28,648,090 | 28,671,650 |
nsv3915580 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 28,516,623 | 28,534,378 | 28,756,069 | 28,779,629 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15127959 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000451664.2, VCV000399636.2 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15127959 | Remapped | Perfect | NC_000006.12:g.(28 440867_28458622)_( 28680313_28703873) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 28,440,867 | 28,458,622 | 28,680,313 | 28,703,873 |
nssv15127959 | Remapped | Perfect | NC_000006.11:g.(28 408644_28426399)_( 28648090_28671650) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 28,408,644 | 28,426,399 | 28,648,090 | 28,671,650 |
nssv15127959 | Submitted genomic | NC_000006.10:g.(28 516623_28534378)_( 28756069_28779629) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 28,516,623 | 28,534,378 | 28,756,069 | 28,779,629 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15127959 | NCBI36: NC_000006.10:g.(28516623_28534378)_(28756069_28779629)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000451664.2, VCV000399636.2 | 3 |