A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063546



Internal ID18806077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:4875088..4942562hg38UCSC Ensembl
Innerchr17:4778383..4845857hg19UCSC Ensembl
Innerchr17:4724560..4786602hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3867475
hg1967475
hg1862043
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3088n100
Supporting Variantsnssv3560131
Samples
Known GenesC17orf107, CHRNE, GP1BA, MINK1, RNF167, SLC25A11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063546
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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