A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471609



Internal ID21129162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52749161..52753096hg38UCSC Ensembl
chr12:53142945..53146880hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg383936
hg193936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001404
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471609
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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