A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3563444



Internal ID18515039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46323689..46666626hg38UCSC Ensembl
Innerchr17:44401055..44743992hg19UCSC Ensembl
Innerchr17:41756820..42099176hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38342938
hg19342938
hg18342357
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060962
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)nssv3563444
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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