A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993680



Internal ID19225984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:59938960..59939051hg38UCSC Ensembl
Outerchr14:60405678..60405769hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142171
Supporting Variants
SamplesKWS2
Known GenesLRRC9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993680
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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