A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3954857



Internal ID18870133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:82970370..82970665hg38UCSC Ensembl
Outerchr16:83003975..83004270hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1109026
Supporting Variants
SamplesKWS1
Known GenesCDH13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3954857
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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