A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002975



Internal ID20570015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65209126..65209480hg38UCSC Ensembl
chr12:65602906..65603260hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465431
Supporting Variants
Samples
Known GenesLEMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002975
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00283


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