A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019007



Internal ID19108224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:16389765..16401566hg38UCSC Ensembl
Innerchr6:16389996..16401797hg19UCSC Ensembl
Innerchr6:16497975..16509776hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3811802
hg1911802
hg1811802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5920n100
Supporting Variantsnssv3654800
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)nsv1019007
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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