A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447093



Internal ID225406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212442046..212505329hg38UCSC Ensembl
chr2:213306770..213370053hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3863284
hg1963284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924847
Samples
Known GenesERBB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447093
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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