nsv3912769
- 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:58,284,510
- Description:NCBI36/hg18 16p11.2-q24.3(chr16:31893599-33705883)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: 145500 SVs from 150 studies. See in: genome view
Overlapping variant regions from other studies: 144503 SVs from 150 studies. See in: genome view
Overlapping variant regions from other studies: 38882 SVs from 41 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3912769 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 31,943,836 | 31,943,836 | 90,228,345 | 90,228,345 |
nsv3912769 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 31,955,157 | 31,955,157 | 90,294,753 | 90,294,753 |
nsv3912769 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 31,862,658 | 31,893,599 | 33,705,883 | 88,822,254 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15125638 | copy number gain | Multiple | Multiple | See cases | Benign | ClinVar | RCV000451318.2, VCV000399587.2 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15125638 | Remapped | Good | NC_000016.10:g.(31 943836_31943836)_( 90228345_90228345) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 31,943,836 | 31,943,836 | 90,228,345 | 90,228,345 |
nssv15125638 | Remapped | Good | NC_000016.9:g.(319 55157_31955157)_(9 0294753_90294753)d up | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 31,955,157 | 31,955,157 | 90,294,753 | 90,294,753 |
nssv15125638 | Submitted genomic | NC_000016.8:g.(318 62658_31893599)_(3 3705883_88822254)d up | NCBI36 (hg18) | NC_000016.8 | Chr16 | 31,862,658 | 31,893,599 | 33,705,883 | 88,822,254 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15125638 | NCBI36: NC_000016.8:g.(31862658_31893599)_(33705883_88822254)dup | copy number gain | not provided | See cases | Benign | ClinVar | RCV000451318.2, VCV000399587.2 | 3 |