A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18164272



Internal ID20731312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125293465..125293668hg38UCSC Ensembl
chr8:126305707..126305910hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6423522
Supporting Variants
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18164272
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0477


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