A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464371



Internal ID15524436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:12332175..12395145hg38UCSC Ensembl
Innerchr7:12371801..12434771hg19UCSC Ensembl
Innerchr7:12338326..12401296hg18UCSC Ensembl
Innerchr7:12145041..12208011hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3862971
hg1962971
hg1862971
hg1762971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540299
SamplesHGDP00165
Known GenesVWDE
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv464371
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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