A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23274



Internal ID15838993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64921378..64922171hg38UCSC Ensembl
Outerchr17:64918688..64922952hg38UCSC Ensembl
Innerchr17:62917496..62918289hg19UCSC Ensembl
Outerchr17:62914806..62919070hg19UCSC Ensembl
Innerchr17:60347958..60348751hg18UCSC Ensembl
Outerchr17:60345268..60349532hg18UCSC Ensembl
Innerchr17:60347958..60348751hg17UCSC Ensembl
Outerchr17:60345268..60349532hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg384265
hg194265
hg184265
hg174265
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9585
Supporting Variants
SamplesNA18942
Known GenesLRRC37A3
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)nssv23274
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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