A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2712



Internal ID15541864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147697772..147732069hg38UCSC Ensembl
Outerchr5:147077335..147111632hg19UCSC Ensembl
Outerchr5:147057528..147091825hg18UCSC Ensembl
Outerchr5:147057528..147091825hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg385727
hg195727
hg185727
hg175727
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5056
Supporting Variants
SamplesNA18555
Known GenesJAKMIP2
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)nssv2712
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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