A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977992



Internal ID22752927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20431939..20591665hg38UCSC Ensembl
chr16:20443261..20602987hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38159727
hg19159727
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17383597
Samples
Known GenesACSM2A, ACSM2B, ACSM5
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977992
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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