A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2968



Internal ID15547531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:150220306..150233191hg38UCSC Ensembl
Outerchr2:151076820..151089705hg19UCSC Ensembl
Outerchr2:150785066..150797951hg18UCSC Ensembl
Outerchr2:150902328..150915213hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3812886
hg1912886
hg1812886
hg1712886
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7562
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)nsv2968
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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