A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447378



Internal ID225683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42888290..42891366hg38UCSC Ensembl
chr2:43115430..43118506hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383077
hg193077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911614
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447378
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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