A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195938



Internal ID20762978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93217272..93421590hg38UCSC Ensembl
chr12:93611048..93815366hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38204319
hg19204319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470497
Supporting Variants
Samples
Known GenesLOC643339, NUDT4, NUDT4P1, NUDT4P2, UBE2N
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195938
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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