A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941938



Internal ID22717369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64270904..64271201hg38UCSC Ensembl
chr12:64664684..64664981hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362597
Samples
Known GenesC12orf56
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941938
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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