A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056870



Internal ID18799401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46554672hg38UCSC Ensembl
Innerchr17:44214888..44632038hg19UCSC Ensembl
Innerchr17:41570665..41987354hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38417151
hg19417151
hg18416690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3556557, nssv3556558
Samples
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSFP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056870
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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