A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6056758



Internal ID21965992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2822519..3839994hg38UCSC Ensembl
chr20:2803165..3820641hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381017476
hg191017477
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17628097
Samples
Known GenesADAM33, AP5S1, ATRN, AVP, C20orf194, C20orf27, CDC25B, CENPB, DDRGK1, FASTKD5, GFRA4, GNRH2, HSPA12B, ITPA, LZTS3, MRPS26, OXT, PCED1A, PTPRA, SIGLEC1, SLC4A11, SPEF1, UBOX5, UBOX5-AS1, VPS16
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6056758
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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