A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585276



Internal ID16025999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:3030542..3366307hg38UCSC Ensembl
Innerchr20:3011188..3346954hg19UCSC Ensembl
Innerchr20:2959188..3294954hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38335766
hg19335767
hg18335767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv937341
Samples
Known GenesAVP, C20orf194, DDRGK1, FASTKD5, GNRH2, ITPA, LZTS3, MRPS26, OXT, PTPRA, SLC4A11, UBOX5, UBOX5-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585276
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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