A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996293



Internal ID18844216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46718965..46719034hg38UCSC Ensembl
Outerchr13:47293100..47293169hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150818
Supporting Variants
SamplesKWB1
Known GenesLRCH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996293
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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