A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1013190



Internal ID18755721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73262551..73345515hg38UCSC Ensembl
Innerchr2:73489679..73572643hg19UCSC Ensembl
Innerchr2:73343187..73426151hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3882965
hg1982965
hg1882965
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3577306
Samples
Known GenesEGR4, FBXO41
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1013190
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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