A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999630



Internal ID20566670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19143301..19147400hg38UCSC Ensembl
chr12:19296235..19300334hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg384100
hg194100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472300
Supporting Variants
Samples
Known GenesPLEKHA5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999630
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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