A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990177



Internal ID21899520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84973937..84980268hg38UCSC Ensembl
chr2:85201060..85207391hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg386332
hg196332
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519823
Samples
Known GenesKCMF1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990177
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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