A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3524650



Internal ID18822931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:80237764..80337616hg38UCSC Ensembl
Innerchr12:80631544..80731396hg19UCSC Ensembl
Innerchr12:79155675..79255527hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3899853
hg1999853
hg1899853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1038608
Supporting Variants
Samples
Known GenesOTOGL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3524650
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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