A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337716



Internal ID20995269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70257640..70265754hg38UCSC Ensembl
chr2:70484772..70492886hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg388115
hg198115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18089547
Samples
Known GenesPCYOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337716
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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