A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2266



Internal ID15195033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73782550..73808227hg38UCSC Ensembl
Outerchr2:74009677..74035354hg19UCSC Ensembl
Outerchr2:73863185..73888862hg18UCSC Ensembl
Outerchr2:73921332..73947009hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3825678
hg1925678
hg1825678
hg1725678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2780
Supporting Variants
SamplesNA18555
Known GenesC2orf78
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)nssv2266
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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