A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17610057



Internal ID21802104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50484565..50489882hg38UCSC Ensembl
chr12:50878348..50883665hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg385318
hg195318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6020572
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17610057
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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