A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959046



Internal ID19222059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77583657..77585557hg38UCSC Ensembl
Outerchr14:78050000..78051900hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381901
hg191901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118537
Supporting Variants
SamplesKWS1
Known GenesSPTLC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959046
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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