A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1174252



Internal ID15530768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:71559814..71575285hg38UCSC Ensembl
Innerchr10:73319571..73335042hg19UCSC Ensembl
Innerchr10:72989577..73005048hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3815472
hg1915472
hg1815472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv551504
Supporting Variants
SamplesHGDP00994
Known GenesCDH23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1174252
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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