A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056882



Internal ID18799413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46660244hg38UCSC Ensembl
Innerchr17:44214888..44737610hg19UCSC Ensembl
Innerchr17:41570665..42092926hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38522723
hg19522723
hg18522262
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3556579, nssv3556581, nssv3724027, nssv3556580
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)nsv1056882
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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