A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474197



Internal ID21131750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79825301..79826100hg38UCSC Ensembl
chr12:80219081..80219880hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003825
Samples
Known GenesPPP1R12A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474197
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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