A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12576



Internal ID15482651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:679199..850927hg38UCSC Ensembl
Outerchr5:678070..851509hg38UCSC Ensembl
Innerchr5:679314..851042hg19UCSC Ensembl
Outerchr5:678185..851624hg19UCSC Ensembl
Innerchr5:732314..904042hg18UCSC Ensembl
Outerchr5:731185..904624hg18UCSC Ensembl
Innerchr5:732314..904042hg17UCSC Ensembl
Outerchr5:731185..904624hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38173440
hg19173440
hg18173440
hg17173440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA10863
Known GenesTPPP, ZDHHC11
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)nssv12576
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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