A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16256239



Internal ID21400770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149838383..149855459hg38UCSC Ensembl
chr1:149809945..149827025hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3817077
hg1917081
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730064
Supporting Variants
SamplesNA19240
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H3A, HIST2H3C
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16256239
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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