A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8667



Internal ID15846579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:54043346..54262887hg38UCSC Ensembl
Outerchr10:55803106..56022647hg19UCSC Ensembl
Outerchr10:55473112..55692653hg18UCSC Ensembl
Outerchr10:55473112..55692653hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38219542
hg19219542
hg18219542
hg17219542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19509, nssv19398, nssv19637, nssv19867, nssv21541
SamplesNA11830, NA18563, NA18564, NA19240, NA12740
Known GenesPCDH15
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)nsv8667
Frequency
Sample Size31
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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