A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5930556



Internal ID22705824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43848108..43848157hg38UCSC Ensembl
chr12:44241911..44241960hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361664
Samples
Known GenesTMEM117
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5930556
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