A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549897



Internal ID20923047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55785820..56093334hg38UCSC Ensembl
chr2:56012955..56320469hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38307515
hg19307515
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18257604
Samples
Known GenesEFEMP1, MIR216A, MIR216B, MIR217
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549897
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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