A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2313



Internal ID15194078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:221462351..221495576hg38UCSC Ensembl
Outerchr2:222327071..222360296hg19UCSC Ensembl
Outerchr2:222035315..222068540hg18UCSC Ensembl
Outerchr2:222152576..222185801hg17UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg386798
hg196798
hg186798
hg176798
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3174
Supporting Variants
SamplesNA18555
Known GenesEPHA4
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)nssv2313
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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