A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451256



Internal ID229442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70698414..70708515hg38UCSC Ensembl
chr2:70925546..70935647hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3810102
hg1910102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915409
Samples
Known GenesADD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451256
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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