A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575506



Internal ID16362915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49748304..49751627hg38UCSC Ensembl
Innerchr17:47825666..47828989hg19UCSC Ensembl
Innerchr17:45180665..45183988hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg383324
hg193324
hg183324
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv873313
Samples
Known GenesFAM117A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575506
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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