A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930683



Internal ID22705954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122355312..122360957hg38UCSC Ensembl
chr12:122839859..122845504hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385646
hg195646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358678
Samples
Known GenesCLIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930683
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