A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv366



Internal ID15544816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6088939..6122577hg38UCSC Ensembl
Outerchr4:6090666..6124304hg19UCSC Ensembl
Outerchr4:6141567..6175205hg18UCSC Ensembl
Outerchr4:6208738..6242376hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg387360
hg197360
hg187360
hg177360
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211
Supporting Variants
SamplesNA19240
Known GenesJAKMIP1
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)nssv366
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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