A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368843



Internal ID22594512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122191781..122206768hg38UCSC Ensembl
chr12:122676328..122691315hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3814988
hg1914988
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976401
Supporting Variants
Samples
Known GenesB3GNT4, LRRC43
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368843
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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