A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539031



Internal ID20912338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233291488..233292405hg38UCSC Ensembl
chr1:233427234..233428151hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38918
hg19918
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv555n223
Supporting Variantsnssv18250653
Samples
Known GenesPCNXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6539031
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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