A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018418



Internal ID19107635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:16389765..16400495hg38UCSC Ensembl
Innerchr6:16389996..16400726hg19UCSC Ensembl
Innerchr6:16497975..16508705hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3810731
hg1910731
hg1810731
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5920n100
Supporting Variantsnssv3654799, nssv3654798, nssv3749034
Samples
Known GenesATXN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018418
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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