A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5845



Internal ID15196863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207754229..207788071hg38UCSC Ensembl
Outerchr2:208618953..208652795hg19UCSC Ensembl
Outerchr2:208327198..208361040hg18UCSC Ensembl
Outerchr2:208444459..208478301hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg385440
hg195440
hg185440
hg175440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3133
Supporting Variants
SamplesNA19129
Known GenesCCNYL1, FZD5, MIR4775
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)nssv5845
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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