A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6468039



Internal ID21125592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70085501..70089700hg38UCSC Ensembl
chr12:70479281..70483480hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178235
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6468039
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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