A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3288



Internal ID15547882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:10042275..10086893hg38UCSC Ensembl
Outerchr20:10022923..10067541hg19UCSC Ensembl
Outerchr20:9970923..10015541hg18UCSC Ensembl
Outerchr20:9970923..10015541hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg3844619
hg1944619
hg1844619
hg1744619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7652
SamplesNA12156
Known GenesANKEF1, SNAP25-AS1
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)nsv3288
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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