A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6424516



Internal ID21082069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125094500..125147388hg38UCSC Ensembl
chr8:126106742..126159630hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3852889
hg1952889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18228580
Samples
Known GenesNSMCE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6424516
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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