A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183229



Internal ID20750269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132087228..132091464hg38UCSC Ensembl
chr12:132571773..132576009hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384237
hg194237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477346
Supporting Variants
Samples
Known GenesEP400NL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183229
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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