A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14387



Internal ID15836257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:74849459..74850246hg38UCSC Ensembl
Outerchr6:74849069..74850634hg38UCSC Ensembl
Innerchr6:75559175..75559962hg19UCSC Ensembl
Outerchr6:75558785..75560350hg19UCSC Ensembl
Innerchr6:75615895..75616682hg18UCSC Ensembl
Outerchr6:75615505..75617070hg18UCSC Ensembl
Innerchr6:75615895..75616682hg17UCSC Ensembl
Outerchr6:75615505..75617070hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381566
hg191566
hg181566
hg171566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7922
Supporting Variants
SamplesNA18563
Known Genes
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)nssv14387
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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