A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6547801



Internal ID20921001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220037526..220038408hg38UCSC Ensembl
chr1:220210868..220211750hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38883
hg19883
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18248678
Samples
Known GenesEPRS, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6547801
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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