A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978871



Internal ID22753806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1948158..2054280hg38UCSC Ensembl
chr1:1879597..1985719hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38106123
hg19106123
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358729
Samples
Known GenesGABRD, KIAA1751, PRKCZ
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978871
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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