A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24973



Internal ID15837976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:19230949..19636594hg38UCSC Ensembl
Outerchr14:19230949..19637067hg38UCSC Ensembl
Innerchr14:19775527..20104826hg19UCSC Ensembl
Outerchr14:19771474..20105305hg19UCSC Ensembl
Innerchr14:18845527..19174593hg18UCSC Ensembl
Outerchr14:18841474..19175066hg18UCSC Ensembl
Innerchr14:18845527..19174593hg17UCSC Ensembl
Outerchr14:18841474..19175066hg17UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38406119
hg19333832
hg18333593
hg17333593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9117
Supporting Variants
SamplesNA18860
Known GenesBMS1P17, BMS1P18, POTEM
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)nssv24973
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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