A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959508



Internal ID19210916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:62668382..62672282hg38UCSC Ensembl
Outerchr14:63135100..63139000hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110239
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959508
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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