A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5986830



Internal ID21896173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173024192..173024516hg38UCSC Ensembl
chr2:173888920..173889244hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17523719
Samples
Known GenesRAPGEF4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5986830
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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