A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2765



Internal ID15547328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:67807116..67829696hg38UCSC Ensembl
Outerchr2:68034248..68056828hg19UCSC Ensembl
Outerchr2:67887752..67910332hg18UCSC Ensembl
Outerchr2:67945899..67968479hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg387272
hg197272
hg187272
hg177272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9858
SamplesNA18507
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)nsv2765
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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