A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184960



Internal ID20752000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122685886..122691438hg38UCSC Ensembl
chr12:123170433..123175985hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385553
hg195553
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6483712
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184960
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00178


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