A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6592597



Internal ID20965668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112221794..112222811hg38UCSC Ensembl
chr12:112659598..112660615hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381018
hg191018
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18236514
Samples
Known GenesHECTD4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6592597
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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