A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16258124



Internal ID21399088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138247314..138251194hg38UCSC Ensembl
chr2:139004884..139008764hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg383881
hg193881
Variant TypeOTHER inversion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730094
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16258124
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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