A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976694



Internal ID22751629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179854164..180408925hg38UCSC Ensembl
chr5:179281164..179835925hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38554762
hg19554762
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429142
Samples
Known GenesC5orf45, GFPT2, MAPK9, MIR340, MIR6165, RASGEF1C, RNF130, TBC1D9B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976694
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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