A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463801



Internal ID21121354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49314483..49317827hg38UCSC Ensembl
chr12:49708266..49711610hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383345
hg193345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001945
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463801
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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