A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5022



Internal ID15549790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137682556..137689200hg38UCSC Ensembl
Outerchr5:137018245..137024889hg19UCSC Ensembl
Outerchr5:137046144..137052788hg18UCSC Ensembl
Outerchr5:137046144..137052788hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386645
hg196645
hg186645
hg176645
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6024
SamplesNA12156
Known GenesKLHL3
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)nsv5022
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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