A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2773



Internal ID15547336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:72376779..72422182hg38UCSC Ensembl
Outerchr2:72603908..72649311hg19UCSC Ensembl
Outerchr2:72457416..72502819hg18UCSC Ensembl
Outerchr2:72515563..72560966hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3845404
hg1945404
hg1845404
hg1745404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6847
SamplesNA12156
Known GenesEXOC6B
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)nsv2773
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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