A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12676



Internal ID15488878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:681570..810477hg38UCSC Ensembl
Outerchr5:680857..811261hg38UCSC Ensembl
Innerchr5:681685..810592hg19UCSC Ensembl
Outerchr5:680972..811376hg19UCSC Ensembl
Innerchr5:734685..863592hg18UCSC Ensembl
Outerchr5:733972..864376hg18UCSC Ensembl
Innerchr5:734685..863592hg17UCSC Ensembl
Outerchr5:733972..864376hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38130405
hg19130405
hg18130405
hg17130405
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18552
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)nssv12676
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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