A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24588



Internal ID15495218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236713677..236715023hg38UCSC Ensembl
Outerchr1:236712971..236716208hg38UCSC Ensembl
Innerchr1:236876977..236878323hg19UCSC Ensembl
Outerchr1:236876271..236879508hg19UCSC Ensembl
Innerchr1:234943600..234944946hg18UCSC Ensembl
Outerchr1:234942894..234946131hg18UCSC Ensembl
Innerchr1:233203018..233204364hg17UCSC Ensembl
Outerchr1:233202312..233205549hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383238
hg193238
hg183238
hg173238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8924
Supporting Variants
SamplesNA19132
Known GenesACTN2
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)nssv24588
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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