A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066800



Internal ID18809331
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+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3250n100
Supporting Variantsnssv3565799, nssv3565800, nssv3725557
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)nsv1066800
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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