A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6588868



Internal ID20961939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48664224..48665272hg38UCSC Ensembl
chr12:49058007..49059055hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18225965
Samples
Known GenesKANSL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6588868
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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