A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27894



Internal ID15839834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31466986..31467309hg38UCSC Ensembl
Outerchr22:31464227..31468156hg38UCSC Ensembl
Innerchr22:31862972..31863295hg19UCSC Ensembl
Outerchr22:31860213..31864142hg19UCSC Ensembl
Innerchr22:30192972..30193295hg18UCSC Ensembl
Outerchr22:30190213..30194142hg18UCSC Ensembl
Innerchr22:30187526..30187849hg17UCSC Ensembl
Outerchr22:30184767..30188696hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383930
hg193930
hg183930
hg173930
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9897
Supporting Variants
SamplesNA18972
Known GenesEIF4ENIF1
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)nssv27894
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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