A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2831



Internal ID15547394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:94951822..94996585hg38UCSC Ensembl
Outerchr2:95617567..95662330hg19UCSC Ensembl
Outerchr2:94981294..95026057hg18UCSC Ensembl
Outerchr2:95039441..95084204hg17UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3844764
hg1944764
hg1844764
hg1744764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7525
SamplesNA12156
Known Genes
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)nsv2831
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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