A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17578289



Internal ID21770332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125363512..125363621hg38UCSC Ensembl
chr8:126375754..126375863hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6015066
Supporting Variants
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17578289
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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