A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983421



Internal ID19227091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:38132912..38133002hg38UCSC Ensembl
Outerchr5:38133014..38133104hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125250
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983421
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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