A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25652



Internal ID15497902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452742..18501919hg38UCSC Ensembl
Outerchr17:18452207..18502702hg38UCSC Ensembl
Innerchr17:18356056..18405233hg19UCSC Ensembl
Outerchr17:18355521..18406016hg19UCSC Ensembl
Innerchr17:18296781..18345958hg18UCSC Ensembl
Outerchr17:18296246..18346741hg18UCSC Ensembl
Innerchr17:18296781..18345958hg17UCSC Ensembl
Outerchr17:18296246..18346741hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3850496
hg1950496
hg1850496
hg1750496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA19240
Known GenesLGALS9C
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)nssv25652
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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