A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6542338



Internal ID20915602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184002209..184006737hg38UCSC Ensembl
chr1:183971343..183975871hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg384529
hg194529
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18249517
Samples
Known GenesCOLGALT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6542338
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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