A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18222684



Internal ID20789724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56764923..56765395hg38UCSC Ensembl
chr12:57158707..57159179hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6592101
Supporting Variants
Samples
Known GenesHSD17B6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18222684
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00011


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