A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16044



Internal ID15493591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:3930820..3939167hg38UCSC Ensembl
Outerchr8:3930073..3940233hg38UCSC Ensembl
Innerchr8:3788342..3796689hg19UCSC Ensembl
Outerchr8:3787595..3797755hg19UCSC Ensembl
Innerchr8:3775750..3784097hg18UCSC Ensembl
Outerchr8:3775003..3785163hg18UCSC Ensembl
Innerchr8:3775750..3784097hg17UCSC Ensembl
Outerchr8:3775003..3785163hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg3810161
hg1910161
hg1810161
hg1710161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8268
Supporting Variants
SamplesNA18975
Known GenesCSMD1
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)nssv16044
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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