A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554055



Internal ID20927164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230275424..230275562hg38UCSC Ensembl
chr1:230411170..230411308hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18250344
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554055
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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