A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992738



Internal ID19238896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:94373246..94375946hg38UCSC Ensembl
Outerchr13:95025500..95028200hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141233
Supporting Variants
SamplesKWS2
Known GenesGPC6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992738
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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