A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975543



Internal ID22750478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79026827..79158710hg38UCSC Ensembl
chr2:79253953..79385836hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38131884
hg19131884
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401594
Samples
Known GenesREG1A, REG1B, REG1P, REG3A, REG3G
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975543
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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