A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003821



Internal ID20570861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79777801..79778900hg38UCSC Ensembl
chr12:80171581..80172680hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467669
Supporting Variants
Samples
Known GenesPPP1R12A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003821
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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