A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002926



Internal ID20569966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71912901..71914900hg38UCSC Ensembl
chr12:72306681..72308680hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458955
Supporting Variants
Samples
Known GenesTBC1D15
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002926
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00026


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