A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065340



Internal ID18807871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46267481..46708304hg38UCSC Ensembl
Innerchr17:44344847..44785670hg19UCSC Ensembl
Innerchr17:41700624..42140851hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38440824
hg19440824
hg18440228
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3250n100
Supporting Variantsnssv3564518, nssv3564517
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065340
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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