A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469591



Internal ID15187620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80085322..80293486hg38UCSC Ensembl
Innerchr17:78059121..78267285hg19UCSC Ensembl
Innerchr17:75673716..75881880hg18UCSC Ensembl
Innerchr17:78759240..78967404hg16UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38208165
hg19208165
hg18208165
hg16208165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674533, nssv1674748, nssv1673795, nssv1673642, nssv1674556, nssv1674172, nssv1672912, nssv1672846, nssv1673062, nssv1675065, nssv1674339, nssv1672092, nssv1672721, nssv1674344, nssv1676322, nssv1673819, nssv1676079, nssv1672462, nssv1676145, nssv1676375, nssv1674616, nssv1673286
Samples
Known GenesCARD14, CCDC40, EIF4A3, GAA, RNF213, SGSH, SLC26A11
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)nsv469591
Frequency
Sample Size265
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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