A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575346



Internal ID16016069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46359128..46481604hg38UCSC Ensembl
Innerchr17:44436494..44558970hg19UCSC Ensembl
Innerchr17:41792236..41914286hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38122477
hg19122477
hg18122051
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5646n54
Supporting Variantsnssv872734, nssv872739, nssv872744, nssv872742, nssv872745, nssv872741, nssv872728, nssv872743, nssv872729, nssv872732, nssv872733, nssv872736, nssv872730, nssv872737, nssv872740, nssv872731, nssv872735, nssv872738
Samples
Known GenesARL17A, ARL17B, NSFP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575346
Frequency
Sample Size17421
Observed Gain1
Observed Loss17
Observed Complex0
Frequencyn/a


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