A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6354591



Internal ID21012144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192189801..192191600hg38UCSC Ensembl
chr2:193054527..193056326hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18081499
Samples
Known GenesTMEFF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6354591
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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