A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24258



Internal ID15489008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46602756..46603234hg38UCSC Ensembl
Outerchr17:46602620..46604222hg38UCSC Ensembl
Innerchr17:44680122..44680600hg19UCSC Ensembl
Outerchr17:44679986..44681588hg19UCSC Ensembl
Innerchr17:42035438..42035916hg18UCSC Ensembl
Outerchr17:42035302..42036904hg18UCSC Ensembl
Innerchr17:42035438..42035916hg17UCSC Ensembl
Outerchr17:42035302..42036904hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381603
hg191603
hg181603
hg171603
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA18552
Known GenesNSF, NSFP1
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)nssv24258
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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