A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21868



Internal ID15495621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495495..27500979hg38UCSC Ensembl
Outerchr12:27495037..27502335hg38UCSC Ensembl
Innerchr12:27648428..27653912hg19UCSC Ensembl
Outerchr12:27647970..27655268hg19UCSC Ensembl
Innerchr12:27539695..27545179hg18UCSC Ensembl
Outerchr12:27539237..27546535hg18UCSC Ensembl
Innerchr12:27539695..27545179hg17UCSC Ensembl
Outerchr12:27539237..27546535hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387299
hg197299
hg187299
hg177299
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8931
Supporting Variants
SamplesNA19144
Known GenesSMCO2
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)nssv21868
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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