A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987651



Internal ID19220528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:53448071..53448131hg38UCSC Ensembl
Outerchr13:54022206..54022266hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132858
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987651
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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