A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063228



Internal ID18805759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46142189..46717377hg38UCSC Ensembl
Innerchr17:44219555..44794743hg19UCSC Ensembl
Innerchr17:41575332..42149927hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38575189
hg19575189
hg18574596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3556765
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)nsv1063228
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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