A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109026



Internal ID18931394
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 StatusM
Merged Variants
Supporting Variantsnssv3954857
SamplesKWS1
Known GenesCDH13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109026
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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