A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057954



Internal ID18800485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46148387..46707604hg38UCSC Ensembl
Innerchr17:44225753..44784970hg19UCSC Ensembl
Innerchr17:41581530..42140153hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38559218
hg19559218
hg18558624
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3557271
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, 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)nsv1057954
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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