A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183970



Internal ID20751010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76208509..76294007hg38UCSC Ensembl
chr12:76602289..76687787hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3885499
hg1985499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459991
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183970
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00033


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