A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2763



Internal ID15547326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:67226049..67259600hg38UCSC Ensembl
Outerchr2:67453181..67486732hg19UCSC Ensembl
Outerchr2:67306685..67340236hg18UCSC Ensembl
Outerchr2:67364832..67398383hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg385888
hg195888
hg185888
hg175888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7503
SamplesNA12156
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)nsv2763
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer