A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534438



Internal ID15164147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:44276990..44339733hg38UCSC Ensembl
Innerchr2:44504129..44566872hg19UCSC Ensembl
Innerchr2:44357633..44420376hg18UCSC Ensembl
Innerchr2:44415780..44478523hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3862744
hg1962744
hg1862744
hg1762744
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457196
Supporting Variants
SamplesHGDP01306
Known GenesPREPL, SLC3A1
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)nssv534438
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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