A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185057



Internal ID20752097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:744801..771800hg38UCSC Ensembl
chr12:853967..880966hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3827000
hg1927000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6473636
Supporting Variants
Samples
Known GenesWNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185057
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00014


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