A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13120



Internal ID15484953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181405802..181461178hg38UCSC Ensembl
Outerchr5:181404106..181461285hg38UCSC Ensembl
Innerchr5:180832803..180888179hg19UCSC Ensembl
Outerchr5:180831107..180888286hg19UCSC Ensembl
Innerchr5:180765409..180820785hg18UCSC Ensembl
Outerchr5:180763713..180820892hg18UCSC Ensembl
Innerchr5:180765409..180820785hg17UCSC Ensembl
Outerchr5:180763713..180820892hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3857180
hg1957180
hg1857180
hg1757180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10793
Supporting Variants
SamplesNA12802
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)nssv13120
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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