A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24838



Internal ID15834673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64843787..64918688hg38UCSC Ensembl
Outerchr17:64843068..64921378hg38UCSC Ensembl
Innerchr17:62839905..62914806hg19UCSC Ensembl
Outerchr17:62839186..62917496hg19UCSC Ensembl
Innerchr17:60270367..60345268hg18UCSC Ensembl
Outerchr17:60269648..60347958hg18UCSC Ensembl
Innerchr17:60270367..60345268hg17UCSC Ensembl
Outerchr17:60269648..60347958hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3878311
hg1978311
hg1878311
hg1778311
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9585
Supporting Variants
SamplesNA18537
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)nssv24838
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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