A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv492



Internal ID15545034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:123109979..123144453hg38UCSC Ensembl
Outerchr5:122445674..122480147hg19UCSC Ensembl
Outerchr5:122473573..122508046hg18UCSC Ensembl
Outerchr5:122473573..122508046hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386516
hg196516
hg186516
hg176516
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4979
Supporting Variants
SamplesNA19240
Known GenesPRDM6
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)nssv492
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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