A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190279



Internal ID20757319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:131582101..132134800hg38UCSC Ensembl
chr12:132066646..132619345hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38552700
hg19552700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492719
Supporting Variants
Samples
Known GenesEP400, EP400NL, MMP17, PUS1, SFSWAP, SNORA49, ULK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190279
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00038


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