A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6848



Internal ID15190330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73767041..73811166hg38UCSC Ensembl
Outerchr2:73994168..74038293hg19UCSC Ensembl
Outerchr2:73847676..73891801hg18UCSC Ensembl
Outerchr2:73905823..73949948hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3844126
hg1944126
hg1844126
hg1744126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2780
Supporting Variants
SamplesNA12156
Known GenesC2orf78, DUSP11
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)nssv6848
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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