A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3564518



Internal ID18516113
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1065340
Supporting Variants
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)nssv3564518
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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