A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408852



Internal ID22466722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218617824..218621816hg38UCSC Ensembl
chr2:219482547..219486539hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg383993
hg193993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5902562
Supporting Variants
Samples
Known GenesPLCD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17408852
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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