A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16221



Internal ID15838199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32511842..32512568hg38UCSC Ensembl
Outerchr6:32510372..32513583hg38UCSC Ensembl
Innerchr6:32479619..32480345hg19UCSC Ensembl
Outerchr6:32478149..32481360hg19UCSC Ensembl
Innerchr6:32587597..32588323hg18UCSC Ensembl
Outerchr6:32586127..32589338hg18UCSC Ensembl
Innerchr6:32587597..32588323hg17UCSC Ensembl
Outerchr6:32586127..32589338hg17UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg383212
hg193212
hg183212
hg173212
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7883
Supporting Variants
SamplesNA18860
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)nssv16221
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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