nsv3918827
- 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:191,737
- Description:NCBI36/hg18 6p22.1(chr6:27726613-27878322)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: 824 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 824 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 190 SVs from 15 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3918827 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 27,629,620 | 27,629,620 | 27,821,356 | 27,821,356 |
nsv3918827 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 27,597,399 | 27,618,634 | 27,770,343 | 27,789,134 |
nsv3918827 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 27,705,378 | 27,726,613 | 27,878,322 | 27,897,113 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15128047 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000452009.2, VCV000399184.2 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15128047 | Remapped | Good | NC_000006.12:g.(27 629620_27629620)_( 27821356_27821356) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 27,629,620 | 27,629,620 | 27,821,356 | 27,821,356 |
nssv15128047 | Remapped | Perfect | NC_000006.11:g.(27 597399_27618634)_( 27770343_27789134) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 27,597,399 | 27,618,634 | 27,770,343 | 27,789,134 |
nssv15128047 | Submitted genomic | NC_000006.10:g.(27 705378_27726613)_( 27878322_27897113) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 27,705,378 | 27,726,613 | 27,878,322 | 27,897,113 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15128047 | NCBI36: NC_000006.10:g.(27705378_27726613)_(27878322_27897113)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000452009.2, VCV000399184.2 | 3 |