A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4811



Internal ID15202872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:41844420..41887251hg38UCSC Ensembl
Outerchr5:41844522..41887353hg19UCSC Ensembl
Outerchr5:41880279..41923110hg18UCSC Ensembl
Outerchr5:41880279..41923110hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3842832
hg1942832
hg1842832
hg1742832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8100
SamplesNA12156
Known GenesOXCT1, OXCT1-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)nsv4811
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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