A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4291



Internal ID15539018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:78945535..78979944hg38UCSC Ensembl
Outerchr17:76941617..76976026hg19UCSC Ensembl
Outerchr17:74453212..74487621hg18UCSC Ensembl
Outerchr17:74453212..74487621hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg385325
hg195325
hg185325
hg175325
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2155
Supporting Variants
SamplesNA12878
Known GenesLGALS3BP
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)nssv4291
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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