A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002075



Internal ID20569115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:59005067..59005430hg38UCSC Ensembl
chr12:59398848..59399211hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470762
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002075
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0012


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