A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547292



Internal ID20920494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197413297..197414086hg38UCSC Ensembl
chr2:198278021..198278810hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18257100
Samples
Known GenesSF3B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547292
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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