A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1113312



Internal ID18917836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71427193..71427246hg38UCSC Ensembl
Outerchr10:73186950..73187003hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3968220
SamplesKWS2
Known GenesCDH23
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1113312
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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