A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934234



Internal ID22709556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125809365..125810580hg38UCSC Ensembl
chr12:126293911..126295126hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381216
hg191216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354648
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934234
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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