A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16740



Internal ID15844199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32471773..32473002hg38UCSC Ensembl
Outerchr6:32470802..32473301hg38UCSC Ensembl
Innerchr6:32439550..32440779hg19UCSC Ensembl
Outerchr6:32438579..32441078hg19UCSC Ensembl
Innerchr6:32547528..32548757hg18UCSC Ensembl
Outerchr6:32546557..32549056hg18UCSC Ensembl
Innerchr6:32547528..32548757hg17UCSC Ensembl
Outerchr6:32546557..32549056hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg382500
hg192500
hg182500
hg172500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA19221
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)nssv16740
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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