A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25473



Internal ID15483661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19192848..19195760hg38UCSC Ensembl
Outerchr17:19192838..19196453hg38UCSC Ensembl
Innerchr17:19096161..19099073hg19UCSC Ensembl
Outerchr17:19096151..19099766hg19UCSC Ensembl
Innerchr17:19036754..19039666hg18UCSC Ensembl
Outerchr17:19036744..19040359hg18UCSC Ensembl
Innerchr17:19036754..19039666hg17UCSC Ensembl
Outerchr17:19036744..19040359hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg383616
hg193616
hg183616
hg173616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA12155
Known Genes
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)nssv25473
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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