A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947407



Internal ID22722912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50200148..50200453hg38UCSC Ensembl
chr12:50593931..50594236hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361750
Samples
Known GenesLIMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947407
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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