A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26813



Internal ID15486128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19013389..19148547hg38UCSC Ensembl
Outerchr17:19012704..19149405hg38UCSC Ensembl
Innerchr17:18916702..19051860hg19UCSC Ensembl
Outerchr17:18916017..19052718hg19UCSC Ensembl
Innerchr17:18857427..18992585hg18UCSC Ensembl
Outerchr17:18856742..18993443hg18UCSC Ensembl
Innerchr17:18857427..18992585hg17UCSC Ensembl
Outerchr17:18856742..18993443hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38136702
hg19136702
hg18136702
hg17136702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA18502
Known GenesGRAP, GRAPL, SLC5A10
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)nssv26813
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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