A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033994



Internal ID18776528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:53225739..53458464hg38UCSC Ensembl
Innerchr6:53090537..53323262hg19UCSC Ensembl
Innerchr6:53198496..53431221hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38232726
hg19232726
hg18232726
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3657476
Samples
Known GenesELOVL5, MIR5685, RPS16P5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033994
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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