A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6423522



Internal ID21081075
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 Variantsnssv18164272
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6423522
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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