A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064172



Internal ID18806703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:82955327..83013090hg38UCSC Ensembl
Innerchr16:82988932..83046695hg19UCSC Ensembl
Innerchr16:81546433..81604196hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3857764
hg1957764
hg1857764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3052n100
Supporting Variantsnssv3559860, nssv3719090
Samples
Known GenesCDH13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064172
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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