A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5012



Internal ID15549779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:134646373..134691436hg38UCSC Ensembl
Outerchr5:133982063..134027126hg19UCSC Ensembl
Outerchr5:134009962..134055025hg18UCSC Ensembl
Outerchr5:134009962..134055025hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3845064
hg1945064
hg1845064
hg1745064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8153
SamplesNA12156
Known GenesSEC24A
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)nsv5012
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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