A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442514



Internal ID220939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:252077..294598hg38UCSC Ensembl
chr2:252077..294598hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3842522
hg1942522
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898898
Samples
Known GenesACP1, FAM150B, SH3YL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442514
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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