A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6591906



Internal ID20964977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130842103..132047722hg38UCSC Ensembl
chr12:131326648..132532267hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381205620
hg191205620
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1736n223
Supporting Variantsnssv18233121
Samples
Known GenesEP400, GPR133, LOC116437, LOC338797, MMP17, PUS1, RAN, SFSWAP, SNORA49, ULK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6591906
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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