A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189759



Internal ID20756799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43545893..43569044hg38UCSC Ensembl
chr12:43939696..43962847hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3823152
hg1923152
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455900
Supporting Variants
Samples
Known GenesADAMTS20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189759
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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