A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6590996



Internal ID20964067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48318078..48318889hg38UCSC Ensembl
chr16:48351989..48352800hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38812
hg19812
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18240666
Samples
Known GenesLONP2, MIR548AE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6590996
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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