A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549082



Internal ID20922253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54489132..54490136hg38UCSC Ensembl
chr2:54716269..54717273hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg381005
hg191005
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18258205
Samples
Known GenesSPTBN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549082
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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