A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3725557



Internal ID18677152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46284631..46660244hg38UCSC Ensembl
Innerchr17:44361997..44737610hg19UCSC Ensembl
Innerchr17:41717774..42092926hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38375614
hg19375614
hg18375153
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066800
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)nssv3725557
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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