A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186754



Internal ID20753794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71754501..71755700hg38UCSC Ensembl
chr12:72148281..72149480hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473163
Supporting Variants
Samples
Known GenesRAB21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186754
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


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