A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146378



Internal ID345583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51728775..51728828hg38UCSC Ensembl
chr20:50345314..50345367hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732951
Samples
Known GenesATP9A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146378
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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