A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065317



Internal ID18807848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46104201..46600614hg38UCSC Ensembl
Innerchr17:44181567..44677980hg19UCSC Ensembl
Innerchr17:41537379..42033296hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38496414
hg19496414
hg18495918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3188n100
Supporting Variantsnssv3548585
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)nsv1065317
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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