A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469887



Internal ID15534602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:62099318..62304538hg38UCSC Ensembl
Innerchr17:60176679..60381899hg19UCSC Ensembl
Innerchr17:57531461..57736681hg18UCSC Ensembl
Innerchr17:60651100..60856320hg16UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg38205221
hg19205221
hg18205221
hg16205221
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676361, nssv1673119, nssv1672712, nssv1675883, nssv1676501, nssv1673455
Samples
Known GenesTBC1D3P2
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)nsv469887
Frequency
Sample Size265
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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