A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979656



Internal ID18894982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:82757476..82757613hg38UCSC Ensembl
Outerchr16:82791081..82791218hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142886
Supporting Variants
SamplesKWS2
Known GenesCDH13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979656
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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