A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5282



Internal ID15203390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:44217138..44259154hg38UCSC Ensembl
Outerchr6:44184875..44226891hg19UCSC Ensembl
Outerchr6:44292853..44334869hg18UCSC Ensembl
Outerchr6:44292853..44334869hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385768
hg195768
hg185768
hg175768
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8244, nssv10494, nssv3435
SamplesNA12156, NA12878, NA18956
Known GenesHSP90AB1, MIR4647, NFKBIE, SLC29A1, SLC35B2
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)nsv5282
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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