A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575345



Internal ID16016068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46359128..46469607hg38UCSC Ensembl
Innerchr17:44436494..44546973hg19UCSC Ensembl
Innerchr17:41792236..41902289hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38110480
hg19110480
hg18110054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5645n54
Supporting Variantsnssv872727, nssv872725, nssv872726
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)nsv575345
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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