A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4268



Internal ID15202274
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3243
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)nsv4268
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer