A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469705



Internal ID8501402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45969304..46127121hg38UCSC Ensembl
Innerchr17:44046670..44204487hg19UCSC Ensembl
Innerchr17:41402506..41560265hg18UCSC Ensembl
Innerchr17:44522145..44679904hg16UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38157818
hg19157818
hg18157760
hg16157760
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675708, nssv1675554, nssv1675755, nssv1672409, nssv1672508, nssv1673506, nssv1676434
Samples
Known GenesKANSL1, MAPT, STH
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)nsv469705
Frequency
Sample Size265
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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