A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979503



Internal ID22754438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131622778..131899766hg38UCSC Ensembl
chr12:132107323..132384311hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38276989
hg19276989
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv471n209
Supporting Variantsnssv17354619
Samples
Known GenesMMP17, SFSWAP, ULK1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979503
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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