A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996857



Internal ID20563897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113863992..113870551hg38UCSC Ensembl
chr12:114301797..114308356hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg386560
hg196560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476076
Supporting Variants
Samples
Known GenesRBM19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996857
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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