A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2863



Internal ID15547426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105650615..105683410hg38UCSC Ensembl
Outerchr2:106267072..106299867hg19UCSC Ensembl
Outerchr2:105633504..105666299hg18UCSC Ensembl
Outerchr2:105725590..105758385hg17UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg388208
hg198208
hg188208
hg178208
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1526
SamplesNA19240
Known Genes
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)nsv2863
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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