A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6417950



Internal ID21075503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125160853..125169241hg38UCSC Ensembl
chr8:126173095..126181483hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg388389
hg198389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18164657
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6417950
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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