A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464563



Internal ID21122116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24581434..25314722hg38UCSC Ensembl
chr12:24734368..25467656hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38733289
hg19733289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191368
Samples
Known GenesBCAT1, C12orf77, CASC1, KRAS, LINC00477, LRMP, LYRM5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464563
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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