A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4326



Internal ID15539053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:53471286..53492773hg38UCSC Ensembl
Outerchr18:50997656..51019143hg19UCSC Ensembl
Outerchr18:49251654..49273141hg18UCSC Ensembl
Outerchr18:49251654..49273141hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg385045
hg195045
hg185045
hg175045
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2311
Supporting Variants
SamplesNA12878
Known GenesDCC
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)nssv4326
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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