A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185296



Internal ID20752336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76101277..76105597hg38UCSC Ensembl
chr12:76495057..76499377hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384321
hg194321
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462736
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185296
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00364


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