A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063109



Internal ID18805640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:2342302..2591288hg38UCSC Ensembl
Innerchr17:2245596..2494582hg19UCSC Ensembl
Innerchr17:2192346..2441332hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38248987
hg19248987
hg18248987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719141
Samples
Known GenesLOC284009, METTL16, 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)nsv1063109
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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