A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447420



Internal ID225724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62882976..62883042hg38UCSC Ensembl
chr2:63110111..63110177hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914302
Samples
Known GenesEHBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447420
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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