A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28233



Internal ID15827896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105731476..105735873hg38UCSC Ensembl
Outerchr2:105730718..105737102hg38UCSC Ensembl
Innerchr2:106347933..106352330hg19UCSC Ensembl
Outerchr2:106347175..106353559hg19UCSC Ensembl
Innerchr2:105714365..105718762hg18UCSC Ensembl
Outerchr2:105713607..105719991hg18UCSC Ensembl
Innerchr2:105806451..105810848hg17UCSC Ensembl
Outerchr2:105805693..105812077hg17UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg386385
hg196385
hg186385
hg176385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10107
Supporting Variants
SamplesNA07048
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)nssv28233
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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