A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6552743



Internal ID20925869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54909846..54911483hg38UCSC Ensembl
chr2:55136983..55138620hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg381638
hg191638
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18258210
Samples
Known GenesEML6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6552743
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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