A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5987075



Internal ID21896418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194584956..194588894hg38UCSC Ensembl
chr2:195449680..195453618hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg383939
hg193939
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530960
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5987075
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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