A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342721



Internal ID21000274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128503864..128505746hg38UCSC Ensembl
chr2:129261438..129263320hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381883
hg191883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18076311
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342721
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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