A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190709



Internal ID20757749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104979801..104988000hg38UCSC Ensembl
chr12:105373579..105381778hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg388200
hg198200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474778
Supporting Variants
Samples
Known GenesC12orf45
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190709
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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