A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457969



Internal ID15518034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80920714..80946120hg38UCSC Ensembl
Innerchr17:78894514..78919920hg19UCSC Ensembl
Innerchr17:76509109..76534515hg18UCSC Ensembl
Innerchr17:76509109..76534515hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3825407
hg1925407
hg1825407
hg1725407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535054
SamplesNINDS_22
Known GenesRPTOR
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv457969
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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