A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18247949



Internal ID20814989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162508272..162508688hg38UCSC Ensembl
chr1:162478062..162478478hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6553030
Supporting Variants
Samples
Known GenesUHMK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18247949
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00031


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