A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16258209



Internal ID21398459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91820048..92039398hg38UCSC Ensembl
chr2:92008074..92227424hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38219351
hg19219351
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730191
Supporting Variants
SamplesHG00513
Known GenesACTR3BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16258209
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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