A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934793



Internal ID22710125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110863056..110863107hg38UCSC Ensembl
chr12:111300860..111300911hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358461
Samples
Known GenesCCDC63
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934793
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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