A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554343



Internal ID20927445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49647809..49655430hg38UCSC Ensembl
chr20:48264346..48271967hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg387622
hg197622
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18069009
Samples
Known GenesB4GALT5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554343
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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