nsv1154847
- Organism: Homo sapiens
- Study:nstd97 (Lou et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,771
- Publication(s):Lou et al. 2014
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 203 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 203 SVs from 56 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv1154847 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 87,132,845 | 87,137,136 | 87,139,484 | 87,144,615 |
nsv1154847 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 87,526,622 | 87,530,913 | 87,533,261 | 87,538,392 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
nssv4010277 | deletion | SNP array | SNP genotyping analysis | 1 |
nssv4010278 | deletion | SNP array | SNP genotyping analysis | 1 |
nssv4010279 | duplication | SNP array | SNP genotyping analysis | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv4010277 | Remapped | Perfect | NC_000012.12:g.(87 132845_87137136)_( 87139484_87144615) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 87,132,845 | 87,137,136 | 87,139,484 | 87,144,615 |
nssv4010278 | Remapped | Perfect | NC_000012.12:g.(87 132845_87137136)_( 87139484_87144615) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 87,132,845 | 87,137,136 | 87,139,484 | 87,144,615 |
nssv4010279 | Remapped | Perfect | NC_000012.12:g.(87 132845_87137136)_( 87139484_87144615) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 87,132,845 | 87,137,136 | 87,139,484 | 87,144,615 |
nssv4010277 | Submitted genomic | NC_000012.11:g.(87 526622_87530913)_( 87533261_87538392) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 87,526,622 | 87,530,913 | 87,533,261 | 87,538,392 | ||
nssv4010278 | Submitted genomic | NC_000012.11:g.(87 526622_87530913)_( 87533261_87538392) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 87,526,622 | 87,530,913 | 87,533,261 | 87,538,392 | ||
nssv4010279 | Submitted genomic | NC_000012.11:g.(87 526622_87530913)_( 87533261_87538392) dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 87,526,622 | 87,530,913 | 87,533,261 | 87,538,392 |