A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485235



Internal ID21142788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128217287..128225754hg38UCSC Ensembl
chr12:128701832..128710299hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg388468
hg198468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997525
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485235
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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