A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16258743



Internal ID21399438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46893312..46918177hg38UCSC Ensembl
chr12:47287095..47311960hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3824866
hg1924866
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730138
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16258743
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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