A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448251



Internal ID226532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216865376..216865431hg38UCSC Ensembl
chr1:217038718..217038773hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897093
Samples
Known GenesESRRG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448251
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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