A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440991



Internal ID219482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48543143..48554373hg38UCSC Ensembl
chr2:48770282..48781512hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3811231
hg1911231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913313
Samples
Known GenesSTON1, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440991
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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