A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066515



Internal ID18809046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46317034..46588293hg38UCSC Ensembl
Innerchr17:44394400..44665659hg19UCSC Ensembl
Innerchr17:41750175..42020975hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38271260
hg19271260
hg18270801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3253n100
Supporting Variantsnssv3565940, nssv3565936, nssv3565941, nssv3565935, nssv3565937, nssv3565939, nssv3565934, nssv3565938
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066515
Frequency
Sample Size29084
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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