A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2797



Internal ID15541770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:104414829..104444793hg38UCSC Ensembl
Outerchr8:105427057..105457021hg19UCSC Ensembl
Outerchr8:105496233..105526197hg18UCSC Ensembl
Outerchr8:105496233..105526197hg17UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg386336
hg196336
hg186336
hg176336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337
Supporting Variants
SamplesNA18555
Known GenesDPYS
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)nssv2797
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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