A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2693



Internal ID15547256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:39241500..39286659hg38UCSC Ensembl
Outerchr2:39468641..39513800hg19UCSC Ensembl
Outerchr2:39322145..39367304hg18UCSC Ensembl
Outerchr2:39380292..39425451hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3845160
hg1945160
hg1845160
hg1745160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7488
SamplesNA12156
Known GenesMAP4K3
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)nsv2693
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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