A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979302



Internal ID19240819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:36810878..36810950hg38UCSC Ensembl
Outerchr14:37280083..37280155hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116740
Supporting Variants
SamplesKWS2
Known GenesSLC25A21
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979302
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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