A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898898



Internal ID45
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 StatusS
Merged Variantsnsv5442514
Supporting Variants
Samples
Known GenesACP1, FAM150B, SH3YL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898898
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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