A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980714



Internal ID18865363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71396543..71397143hg38UCSC Ensembl
Outerchr10:73156300..73156900hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143509
Supporting Variants
SamplesKWS1
Known GenesCDH23
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980714
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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