A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551504



Internal ID15992227
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 StatusM
Merged Variants
Supporting Variantsnssv1174252
SamplesHGDP00994
Known GenesCDH23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551504
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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