A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6026470



Internal ID21935813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48842228..48842282hg38UCSC Ensembl
chr12:49236011..49236065hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17612339
Samples
Known GenesDDX23
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6026470
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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