A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18005816



Internal ID20572856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93390501..93394400hg38UCSC Ensembl
chr12:93784277..93788176hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383900
hg193900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459459
Supporting Variants
Samples
Known GenesNUDT4, NUDT4P1, NUDT4P2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18005816
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00054


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