A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999083



Internal ID20566123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125011065..125046485hg38UCSC Ensembl
chr12:125495611..125531031hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3835421
hg1935421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6481411
Supporting Variants
Samples
Known GenesBRI3BP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999083
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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