A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26592



Internal ID15833291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14792441..14814864hg38UCSC Ensembl
Outerchr18:14791648..14815927hg38UCSC Ensembl
Innerchr18:14792440..14814863hg19UCSC Ensembl
Outerchr18:14791647..14815926hg19UCSC Ensembl
Innerchr18:14782440..14804863hg18UCSC Ensembl
Outerchr18:14781647..14805926hg18UCSC Ensembl
Innerchr18:14782440..14804863hg17UCSC Ensembl
Outerchr18:14781647..14805926hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3824280
hg1924280
hg1824280
hg1724280
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9618
Supporting Variants
SamplesNA18504
Known GenesANKRD30B
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)nssv26592
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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