A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6008680



Internal ID21918023
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 StatusM
Merged Variants
Supporting Variantsnssv17593911
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6008680
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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