A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1676501



Internal ID15534009
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
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv469887
Supporting Variants
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)nssv1676501
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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