A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3243



Internal ID15191285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:21574983..21598037hg38UCSC Ensembl
Outerchr4:21576606..21599660hg19UCSC Ensembl
Outerchr4:21185704..21208758hg18UCSC Ensembl
Outerchr4:21252875..21275929hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg386799
hg196799
hg186799
hg176799
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4268
Supporting Variants
SamplesNA12878
Known GenesKCNIP4
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv3243
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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