A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6544396



Internal ID20917636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113721908..113722194hg38UCSC Ensembl
chr1:114264530..114264816hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv313n223
Supporting Variantsnssv18247476
Samples
Known GenesPHTF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6544396
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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