A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730064



Internal ID21400880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149816748..149876338hg38UCSC Ensembl
chr1:149788302..149847888hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3859591
hg1959587
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16256832, nssv16258715, nssv16256708, nssv16258771, nssv16257296, nssv16257789, nssv16256752, nssv16256509, nssv16258794, nssv16258671, nssv16258595, nssv16258090, nssv16256197, nssv16256642, nssv16256087, nssv16258332, nssv16256158, nssv16256811, nssv16258640, nssv16257559, nssv16258519, nssv16256239, nssv16257268, nssv16258026, nssv16258335, nssv16258034
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H3A, HIST2H3C, HIST2H4A, HIST2H4B
MethodSequencing
Analysis
Platform
Comments
ReferenceHanlon_et_al_2021
Pubmed ID34332539
Accession Number(s)nsv4730064
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