A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013132



Internal ID18755663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:64008041..64403950hg38UCSC Ensembl
Innerchr2:64235175..64631084hg19UCSC Ensembl
Innerchr2:64088679..64484588hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38395910
hg19395910
hg18395910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3730856
Samples
Known GenesLINC00309, PELI1, VPS54
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013132
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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