A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575304



Internal ID16016027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46348723..46463467hg38UCSC Ensembl
Innerchr17:44426089..44540833hg19UCSC Ensembl
Innerchr17:41781845..41896148hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38114745
hg19114745
hg18114304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5645n54
Supporting Variantsnssv872612
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)nsv575304
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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