A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343265



Internal ID21000818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42175656..42230564hg38UCSC Ensembl
chr2:42402796..42457704hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3854909
hg1954909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18087870
Samples
Known GenesEML4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343265
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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