A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5592



Internal ID15550417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166544829..166589463hg38UCSC Ensembl
Outerchr6:166958317..167002951hg19UCSC Ensembl
Outerchr6:166878307..166922941hg18UCSC Ensembl
Outerchr6:166928728..166973362hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3844635
hg1944635
hg1844635
hg1744635
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8327
SamplesNA12156
Known GenesRPS6KA2
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)nsv5592
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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