A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997515



Internal ID20564555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128077485..128079199hg38UCSC Ensembl
chr12:128562030..128563744hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381715
hg191715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6494007
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997515
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00476


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