A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410958



Internal ID22468828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:96274381..96401419hg38UCSC Ensembl
chr5:95610085..95737123hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38127039
hg19127039
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976836
Supporting Variants
Samples
Known GenesPCSK1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410958
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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