A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv449



Internal ID15544888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:12684718..12696224hg38UCSC Ensembl
Outerchr5:12684830..12696336hg19UCSC Ensembl
Outerchr5:12737830..12749336hg18UCSC Ensembl
Outerchr5:12737830..12749336hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3820940
hg1920940
hg1820940
hg1720940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4718
Supporting Variants
SamplesNA19240
Known GenesCT49
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)nssv449
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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