A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033452



Internal ID19122674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80178950..80290496hg38UCSC Ensembl
Innerchr6:80888667..81000213hg19UCSC Ensembl
Innerchr6:80945386..81056932hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38111547
hg19111547
hg18111547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648811
Samples
Known GenesBCKDHB
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033452
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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