A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17015385



Internal ID77913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125324205..125324873hg38UCSC Ensembl
chr8:126336447..126337115hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5491280
Supporting Variants
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17015385
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.04138


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