A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000404



Internal ID19191924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:61782395..61787796hg38UCSC Ensembl
Outerchr16:61816299..61821700hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg385402
hg195402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148368
Supporting Variants
SamplesKWB1
Known GenesCDH8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000404
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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