A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928247



Internal ID19528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218613901..218613977hg38UCSC Ensembl
chr2:219478624..219478700hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445007
Supporting Variants
Samples
Known GenesPLCD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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