A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189826



Internal ID20756866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20525357..21140799hg38UCSC Ensembl
chr12:20678291..21293733hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg38615443
hg19615443
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473367
Supporting Variants
Samples
Known GenesPDE3A, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189826
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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