A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574493



Internal ID16015216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16491769..16492366hg38UCSC Ensembl
Innerchr17:16395083..16395680hg19UCSC Ensembl
Innerchr17:16335808..16336405hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38598
hg19598
hg18598
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5475n54
Supporting Variantsnssv868798, nssv868794, nssv868795, nssv868799, nssv868796, nssv868797, nssv868793
Samples
Known GenesFAM211A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574493
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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