A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6460173



Internal ID21117726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76514840..76544733hg38UCSC Ensembl
chr12:76908620..76938513hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3829894
hg1929894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183401
Samples
Known GenesOSBPL8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6460173
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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