A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2784



Internal ID15195098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:26560590..26594826hg38UCSC Ensembl
Outerchr8:26418106..26452342hg19UCSC Ensembl
Outerchr8:26474023..26508259hg18UCSC Ensembl
Outerchr8:26474023..26508259hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg385790
hg195790
hg185790
hg175790
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6130
Supporting Variants
SamplesNA18555
Known GenesDPYSL2
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)nssv2784
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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