A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507



Internal ID15203156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:116763503..116804070hg38UCSC Ensembl
Outerchr11:116634219..116674786hg19UCSC Ensembl
Outerchr11:116139429..116179996hg18UCSC Ensembl
Outerchr11:116139429..116179996hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3840568
hg1940568
hg1840568
hg1740568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1042
SamplesNA19240
Known GenesAPOA5, BUD13, ZNF259
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)nsv507
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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