A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469705



Internal ID6055910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44046670..44204487hg19UCSC Ensembl
Innerchr17:41402506..41560265hg18UCSC Ensembl
Innerchr17:41402506..41560265hg17UCSC Ensembl
Innerchr17:44522145..44679904hg16UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
hg16n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv649726
Samples
Known GenesKIAA1267, MAPT, STH
Method
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.
PlatformEichler Segmental Duplication BAC array
Comments
ReferenceLocke et al 2006
Pubmed ID16826518
Accession Number(s)nsv469705
Frequency
Sample Size265
Observed Gain0
Observed Loss7
Observed Complexn/a
Frequencyn/a


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