A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12561



Internal ID15838114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6622856..6624326hg38UCSC Ensembl
Outerchr4:6621549..6626195hg38UCSC Ensembl
Innerchr4:6624583..6626053hg19UCSC Ensembl
Outerchr4:6623276..6627922hg19UCSC Ensembl
Innerchr4:6675484..6676954hg18UCSC Ensembl
Outerchr4:6674177..6678823hg18UCSC Ensembl
Innerchr4:6742655..6744125hg17UCSC Ensembl
Outerchr4:6741348..6745994hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg384647
hg194647
hg184647
hg174647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10441
Supporting Variants
SamplesNA18860
Known GenesMAN2B2
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)nssv12561
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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