A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25430



Internal ID15493708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:45076925..45160018hg38UCSC Ensembl
Outerchr22:44983673..45165137hg38UCSC Ensembl
Innerchr22:45472806..45555899hg19UCSC Ensembl
Outerchr22:45379553..45561018hg19UCSC Ensembl
Innerchr22:43851470..43934563hg18UCSC Ensembl
Outerchr22:43758217..43939682hg18UCSC Ensembl
Innerchr22:43793343..43876436hg17UCSC Ensembl
Outerchr22:43700090..43881555hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38181465
hg19181466
hg18181466
hg17181466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9919
Supporting Variants
SamplesNA18975
Known GenesLOC100506714, NUP50, PHF21B
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)nssv25430
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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