A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354619



Internal ID22580288
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 StatusS
Merged Variantsnsv5979503
Supporting Variants
Samples
Known GenesMMP17, SFSWAP, ULK1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354619
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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