A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3568598



Internal ID18520193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46576019..46707274hg38UCSC Ensembl
Innerchr17:44653385..44784640hg19UCSC Ensembl
Innerchr17:42008701..42139823hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38131256
hg19131256
hg18131123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060553
Supporting Variants
Samples
Known GenesARL17A, ARL17B, 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)nssv3568598
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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