A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997971



Internal ID20565012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130786401..130789100hg38UCSC Ensembl
chr12:131270946..131273645hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg382700
hg192700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478996
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997971
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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