A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17998389



Internal ID20565429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23043156..23043770hg38UCSC Ensembl
chr12:23196090..23196704hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459546
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17998389
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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