A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6590282



Internal ID20963353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20907972..21582861hg38UCSC Ensembl
chr12:21060906..21735795hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38674890
hg19674890
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18229616
Samples
Known GenesC12orf39, GOLT1B, GYS2, IAPP, PYROXD1, RECQL, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6590282
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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