A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469473



Internal ID21127026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50272262..50274303hg38UCSC Ensembl
chr12:50666045..50668086hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382042
hg192042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001244
Samples
Known GenesLIMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469473
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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