A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993892



Internal ID18891644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8301061..8301160hg38UCSC Ensembl
Outerchr4:8302788..8302887hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142385
Supporting Variants
SamplesKWS2
Known GenesHTRA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993892
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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