A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457852



Internal ID15517917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54813676..54848141hg38UCSC Ensembl
Innerchr17:52891037..52925502hg19UCSC Ensembl
Innerchr17:50246036..50280501hg18UCSC Ensembl
Innerchr17:50246036..50280501hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3834466
hg1934466
hg1834466
hg1734466
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534961
Samples1780862432_A
Known Genes
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)nsv457852
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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