A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4314



Internal ID15549011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:43996257..44022728hg38UCSC Ensembl
Outerchr4:43998274..44024745hg19UCSC Ensembl
Outerchr4:43693031..43719502hg18UCSC Ensembl
Outerchr4:43839202..43865673hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3813558
hg1913558
hg1813558
hg1713558
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2462
SamplesNA18555
Known Genes
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)nsv4314
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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