A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3564277



Internal ID18515872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46267481..46660244hg38UCSC Ensembl
Innerchr17:44344847..44737610hg19UCSC Ensembl
Innerchr17:41700624..42092926hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38392764
hg19392764
hg18392303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059593
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)nssv3564277
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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