A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575097



Internal ID16362506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44353854..44355211hg38UCSC Ensembl
Innerchr17:42431222..42432579hg19UCSC Ensembl
Innerchr17:39786748..39788105hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381358
hg191358
hg181358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5608n54
Supporting Variantsnssv872235
Samples
Known GenesFAM171A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575097
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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