A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2696



Internal ID15547259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:39761241..39806148hg38UCSC Ensembl
Outerchr2:39988381..40033288hg19UCSC Ensembl
Outerchr2:39841885..39886792hg18UCSC Ensembl
Outerchr2:39900032..39944939hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3844908
hg1944908
hg1844908
hg1744908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7490
SamplesNA12156
Known GenesTHUMPD2
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)nsv2696
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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