A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24316



Internal ID15836780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:64855897..64871444hg38UCSC Ensembl
Outerchr17:64855339..64877552hg38UCSC Ensembl
Innerchr17:62852015..62867562hg19UCSC Ensembl
Outerchr17:62851457..62873670hg19UCSC Ensembl
Innerchr17:60282477..60298024hg18UCSC Ensembl
Outerchr17:60281919..60304132hg18UCSC Ensembl
Innerchr17:60282477..60298024hg17UCSC Ensembl
Outerchr17:60281919..60304132hg17UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3822214
hg1922214
hg1822214
hg1722214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9585
Supporting Variants
SamplesNA18564
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)nssv24316
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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