A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942946



Internal ID22718390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:119892095..119892950hg38UCSC Ensembl
chr12:120329899..120330754hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369470
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942946
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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