A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549622



Internal ID20922784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237996476..237997098hg38UCSC Ensembl
chr2:238905118..238905740hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38623
hg19623
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18257429
Samples
Known GenesUBE2F, UBE2F-SCLY
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549622
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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