A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998930



Internal ID20565970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30439233..30439747hg38UCSC Ensembl
chr12:30592166..30592680hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6474993
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998930
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00095


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