A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445007



Internal ID223368
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 StatusM
Merged Variants
Supporting Variantsnssv16928247
Samples
Known GenesPLCD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445007
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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