A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2751



Internal ID15547314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:62464129..62509996hg38UCSC Ensembl
Outerchr2:62691264..62737131hg19UCSC Ensembl
Outerchr2:62544768..62590635hg18UCSC Ensembl
Outerchr2:62602915..62648782hg17UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3845868
hg1945868
hg1845868
hg1745868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6843
SamplesNA12156
Known GenesTMEM17
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)nsv2751
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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