A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023579



Internal ID19112796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:16387952..16400495hg38UCSC Ensembl
Innerchr6:16388183..16400726hg19UCSC Ensembl
Innerchr6:16496162..16508705hg18UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3812544
hg1912544
hg1812544
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5920n100
Supporting Variantsnssv3654796
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)nsv1023579
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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