A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17418389



Internal ID22476259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196245165..196619601hg38UCSC Ensembl
chr3:195972036..196346472hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38374437
hg19374437
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975867
Supporting Variants
Samples
Known GenesC3orf43, FBXO45, PCYT1A, RNF168, TCTEX1D2, TM4SF19, TM4SF19-TCTEX1D2, UBXN7, WDR53
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17418389
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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