A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15023



Internal ID15492618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:785961..839538hg38UCSC Ensembl
Outerchr5:785792..839951hg38UCSC Ensembl
Innerchr5:786076..839653hg19UCSC Ensembl
Outerchr5:785907..840066hg19UCSC Ensembl
Innerchr5:839076..892653hg18UCSC Ensembl
Outerchr5:838907..893066hg18UCSC Ensembl
Innerchr5:839076..892653hg17UCSC Ensembl
Outerchr5:838907..893066hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3854160
hg1954160
hg1854160
hg1754160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10654
Supporting Variants
SamplesNA18972
Known GenesZDHHC11
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)nssv15023
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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