A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2874



Internal ID15547437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:109531796..109576044hg38UCSC Ensembl
Outerchr2:110289373..110333621hg19UCSC Ensembl
Outerchr2:109646662..109690910hg18UCSC Ensembl
Outerchr2:109646748..109690996hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3844249
hg1944249
hg1844249
hg1744249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2286
SamplesNA18555
Known GenesSEPT10
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)nsv2874
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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