A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6348213



Internal ID21005766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224490727..224495197hg38UCSC Ensembl
chr2:225355444..225359914hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg384471
hg194471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18083792
Samples
Known GenesCUL3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6348213
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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