A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992802



Internal ID19232678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89182392..89191792hg38UCSC Ensembl
Outerchr16:89248800..89258200hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg389401
hg199401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141297
Supporting Variants
SamplesKWS2
Known GenesCDH15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992802
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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