A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16258090



Internal ID21398163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149844292..149855800hg38UCSC Ensembl
chr1:149815859..149827364hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3811509
hg1911506
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730064
Supporting Variants
SamplesHG00513
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H3A, HIST2H3C
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16258090
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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