A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5239



Internal ID15203342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29559630..29598669hg38UCSC Ensembl
Outerchr6:29527407..29566446hg19UCSC Ensembl
Outerchr6:29635386..29674425hg18UCSC Ensembl
Outerchr6:29635386..29674425hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3839040
hg1939040
hg1839040
hg1739040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9890
SamplesNA18507
Known GenesOR2H2, SNORD32B, UBD
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)nsv5239
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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