A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16258784



Internal ID21398198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138246286..138251774hg38UCSC Ensembl
chr2:139003856..139009344hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg385489
hg195489
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730094
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16258784
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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