A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6562259



Internal ID20935330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123977549..125974993hg38UCSC Ensembl
chr3:123696396..125693836hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381997445
hg191997441
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18259505
Samples
Known GenesALG1L, FAM86JP, HEG1, ITGB5, KALRN, MIR5002, MIR5092, MIR548I1, MIR6083, MUC13, OSBPL11, ROPN1, ROPN1B, SLC12A8, SNX4, UMPS, ZNF148
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6562259
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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