A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976727



Internal ID18900876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:44572864..44576164hg38UCSC Ensembl
Outerchr13:45147000..45150300hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg383301
hg193301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124673
Supporting Variants
SamplesKWS2
Known GenesTSC22D1, TSC22D1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976727
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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