A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6553229



Internal ID20926338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52081107..52082474hg38UCSC Ensembl
chr1:52546779..52548146hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381368
hg191368
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18249690
Samples
Known GenesBTF3L4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6553229
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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