A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16258335



Internal ID21398598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149820007..149850408hg38UCSC Ensembl
chr1:149791562..149821975hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3830402
hg1930414
Variant TypeOTHER inversion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4730064
Supporting Variants
SamplesHG00514
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H3A, HIST2H3C, HIST2H4A, HIST2H4B
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nssv16258335
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer