A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6588682



Internal ID20961753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23742931..23743234hg38UCSC Ensembl
chr12:23895865..23896168hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18233504
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6588682
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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