A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348611



Internal ID21006164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158578625..158581236hg38UCSC Ensembl
chr2:159435137..159437748hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg382612
hg192612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18079868
Samples
Known GenesPKP4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348611
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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