A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059182



Internal ID18801713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2359823..2409068hg38UCSC Ensembl
Innerchr17:2263117..2312362hg19UCSC Ensembl
Innerchr17:2209867..2259112hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3849246
hg1949246
hg1849246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3083n100
Supporting Variantsnssv3560080
Samples
Known GenesLOC284009, MNT, SGSM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059182
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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