A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530312



Internal ID20903673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4942999..4947970hg38UCSC Ensembl
chr20:4923645..4928616hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg384972
hg194972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18068992
Samples
Known GenesSLC23A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530312
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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