A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982275



Internal ID21891618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203701009..203701217hg38UCSC Ensembl
chr1:203670137..203670345hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38209
hg19209
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17524976
Samples
Known GenesATP2B4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982275
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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