A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999094



Internal ID20566134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125266997..125269039hg38UCSC Ensembl
chr12:125751543..125753585hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382043
hg192043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6493538
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999094
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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