A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14344



Internal ID15481624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181395974..181395974hg38UCSC Ensembl
Outerchr5:181394867..181396089hg38UCSC Ensembl
Innerchr5:180822975..180822975hg19UCSC Ensembl
Outerchr5:180821868..180823090hg19UCSC Ensembl
Innerchr5:180755581..180755581hg18UCSC Ensembl
Outerchr5:180754474..180755696hg18UCSC Ensembl
Innerchr5:180755581..180755581hg17UCSC Ensembl
Outerchr5:180754474..180755696hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381223
hg191223
hg181223
hg171223
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10793
Supporting Variants
SamplesNA10839
Known Genes
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)nssv14344
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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