A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18249268



Internal ID20816308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220201546..220202135hg38UCSC Ensembl
chr1:220374888..220375477hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38590
hg19590
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6539456
Supporting Variants
Samples
Known GenesRAB3GAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18249268
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00047


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