A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6590263



Internal ID20963334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:66057593..67140364hg38UCSC Ensembl
chr12:66451373..67534144hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg381082772
hg191082772
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1575n223
Supporting Variantsnssv18234288
Samples
Known GenesGRIP1, HELB, IRAK3, LLPH, TMBIM4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6590263
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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