A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057464



Internal ID18799995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2650623..2989686hg38UCSC Ensembl
Innerchr20:2631269..2970332hg19UCSC Ensembl
Innerchr20:2579269..2918332hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38339064
hg19339064
hg18339064
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3599345, nssv3599346, nssv3599347
Samples
Known GenesC20orf141, CPXM1, EBF4, IDH3B, MIR1292, NOP56, PCED1A, PTPRA, SNORA51, SNORD110, SNORD56, SNORD57, SNORD86, TMEM239, VPS16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057464
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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