A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575347



Internal ID16016070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46359128..46489976hg38UCSC Ensembl
Innerchr17:44436494..44567342hg19UCSC Ensembl
Innerchr17:41792236..41922658hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38130849
hg19130849
hg18130423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5641n54
Supporting Variantsnssv872746
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)nsv575347
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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