A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192248



Internal ID20759288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:755001..761400hg38UCSC Ensembl
chr12:864167..870566hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg386400
hg196400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6465049
Supporting Variants
Samples
Known GenesWNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192248
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00131


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