A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988697



Internal ID21898040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24251387..24251474hg38UCSC Ensembl
chr2:24474256..24474343hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533171
Samples
Known GenesITSN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988697
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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