A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469731



Internal ID15187760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66966354..67152566hg38UCSC Ensembl
Innerchr17:64962470..65148682hg19UCSC Ensembl
Innerchr17:62392932..62579144hg18UCSC Ensembl
Innerchr17:65512571..65698783hg16UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38186213
hg19186213
hg18186213
hg16186213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1673980, nssv1675028, nssv1674724
Samples
Known GenesCACNG1, CACNG4, HELZ
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)nsv469731
Frequency
Sample Size265
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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