A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16944609



Internal ID30413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196244777..196619867hg38UCSC Ensembl
chr3:195971648..196346738hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38375091
hg19375091
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563557
Supporting Variants
Samples
Known GenesC3orf43, FBXO45, PCYT1A, RNF168, TCTEX1D2, TM4SF19, TM4SF19-TCTEX1D2, UBXN7, WDR53
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16944609
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.264283


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