A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16544



Internal ID15833902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32480715..32481550hg38UCSC Ensembl
Outerchr6:32480326..32481892hg38UCSC Ensembl
Innerchr6:32448492..32449327hg19UCSC Ensembl
Outerchr6:32448103..32449669hg19UCSC Ensembl
Innerchr6:32556470..32557305hg18UCSC Ensembl
Outerchr6:32556081..32557647hg18UCSC Ensembl
Innerchr6:32556470..32557305hg17UCSC Ensembl
Outerchr6:32556081..32557647hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381567
hg191567
hg181567
hg171567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18517
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)nssv16544
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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