A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478481



Internal ID21136034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122696401..122700500hg38UCSC Ensembl
chr12:123180948..123185047hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18197123
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478481
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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