A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183099



Internal ID20750139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:729401..773400hg38UCSC Ensembl
chr12:838567..882566hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3844000
hg1944000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6470656
Supporting Variants
Samples
Known GenesWNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183099
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00026


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