A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019816



Internal ID18762351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30165173..30276487hg38UCSC Ensembl
Innerchr8:30022689..30134003hg19UCSC Ensembl
Innerchr8:30142231..30253545hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38111315
hg19111315
hg18111315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3685552
Samples
Known GenesDCTN6, MIR548O2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019816
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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