A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1676609



Internal ID15534117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85777953..85944682hg38UCSC Ensembl
Innerchr8:86805457..86956911hg19UCSC Ensembl
Innerchr8:86874898..87026027hg18UCSC Ensembl
Innerchr8:86762305..86913434hg16UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38166730
hg19151455
hg18151130
hg16151130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469603
Supporting Variants
Samples
Known GenesREXO1L2P
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nssv1676609
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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