A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16257335



Internal ID21399279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138247262..138251292hg38UCSC Ensembl
chr2:139004832..139008862hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg384031
hg194031
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730094
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16257335
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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