A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3565755



Internal ID18517350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46270361..46708304hg38UCSC Ensembl
Innerchr17:44347727..44785670hg19UCSC Ensembl
Innerchr17:41703504..42140851hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38437944
hg19437944
hg18437348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064074
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)nssv3565755
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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