A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27975



Internal ID15834438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:26631773..26635306hg38UCSC Ensembl
Outerchr22:26630396..26636796hg38UCSC Ensembl
Innerchr22:27027737..27031270hg19UCSC Ensembl
Outerchr22:27026360..27032760hg19UCSC Ensembl
Innerchr22:25357737..25361270hg18UCSC Ensembl
Outerchr22:25356360..25362760hg18UCSC Ensembl
Innerchr22:25352291..25355824hg17UCSC Ensembl
Outerchr22:25350914..25357314hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg386401
hg196401
hg186401
hg176401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9894
Supporting Variants
SamplesNA18517
Known GenesCRYBA4
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)nssv27975
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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