A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469707



Internal ID15187736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175516474..175693143hg38UCSC Ensembl
Innerchr5:174943477..175120146hg19UCSC Ensembl
Innerchr5:174876083..175052752hg18UCSC Ensembl
Innerchr5:174924400..175101069hg16UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38176670
hg19176670
hg18176670
hg16176670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673740, nssv1675282
Samples
Known GenesHRH2, SFXN1
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)nsv469707
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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