A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959047



Internal ID19217142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:81348556..81350356hg38UCSC Ensembl
Outerchr14:81814900..81816700hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381801
hg191801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118538
Supporting Variants
SamplesKWS1
Known GenesSTON2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959047
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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