A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489



Internal ID15550303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:134903297..134948744hg38UCSC Ensembl
Outerchr6:135224435..135269882hg19UCSC Ensembl
Outerchr6:135266128..135311575hg18UCSC Ensembl
Outerchr6:135266128..135311575hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3845448
hg1945448
hg1845448
hg1745448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6090
SamplesNA12156
Known GenesALDH8A1
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)nsv5489
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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