A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10820



Internal ID15499097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:31391148..31484040hg38UCSC Ensembl
Outerchr6:31358925..31451817hg19UCSC Ensembl
Outerchr6:31466904..31559796hg18UCSC Ensembl
Outerchr6:31466904..31559796hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3892893
hg1992893
hg1892893
hg1792893
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13937, nssv15957, nssv14458, nssv15987, nssv16680, nssv13946
SamplesNA19144, NA18563, NA19221, NA19132, NA19007
Known GenesHCG26, HCP5, MICA
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10820
Frequency
Sample Size31
Observed Gain1
Observed Loss4
Observed Complex0
Frequencyn/a


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