A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575530



Internal ID16362939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:51543089..51548375hg38UCSC Ensembl
Innerchr17:49620450..49625736hg19UCSC Ensembl
Innerchr17:46975449..46980735hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg385287
hg195287
hg185287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5686n54
Supporting Variantsnssv873449
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575530
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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