A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014682



Internal ID18757217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131290833..131612296hg38UCSC Ensembl
Innerchr2:132048406..132369869hg19UCSC Ensembl
Innerchr2:131764876..132086339hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38321464
hg19321464
hg18321464
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580862
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, POTEKP, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014682
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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