A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443518



Internal ID22501388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43001610..43003756hg38UCSC Ensembl
chr6:42969348..42971494hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg382147
hg192147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889239
Supporting Variants
Samples
Known GenesPPP2R5D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443518
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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