A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474977



Internal ID21132530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:81425297..81428946hg38UCSC Ensembl
chr12:81819076..81822725hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg383650
hg193650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003757
Samples
Known GenesPPFIA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474977
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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