A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029255



Internal ID19118474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:124927961..125234814hg38UCSC Ensembl
Innerchr6:125249107..125555960hg19UCSC Ensembl
Innerchr6:125290806..125597659hg18UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38306854
hg19306854
hg18306854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3654379
Samples
Known GenesRNF217, STL, TPD52L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029255
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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