A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6552475



Internal ID20925603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42650407..42650737hg38UCSC Ensembl
chr1:43116078..43116408hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18250981
Samples
Known GenesCCDC30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6552475
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