A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24116



Internal ID15844747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19992945..22303333hg38UCSC Ensembl
Outerchr15:19992352..22308242hg38UCSC Ensembl
Innerchr15:20198198..22591284hg19UCSC Ensembl
Outerchr15:20197605..22646418hg19UCSC Ensembl
Innerchr15:18458212..20092648hg18UCSC Ensembl
Outerchr15:18457619..20197782hg18UCSC Ensembl
Innerchr15:18458212..20092648hg17UCSC Ensembl
Outerchr15:18457619..20197782hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382315891
hg192448814
hg181740164
hg171740164
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9179
Supporting Variants
SamplesNA19240
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
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)nssv24116
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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