A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6540558



Internal ID20863369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192830119..193074178hg38UCSC Ensembl
chr1:192799249..193043308hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38244060
hg19244060
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18250238
Samples
Known GenesTROVE2, UCHL5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6540558
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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