A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929404



Internal ID22704657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51178297..51178614hg38UCSC Ensembl
chr12:51572080..51572397hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360635
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929404
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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