A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441912



Internal ID220360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:57229619..57369619hg38UCSC Ensembl
chr2:57456754..57596754hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38140001
hg19140001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913204
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441912
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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