A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17702540



Internal ID126206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:82593088..82725956hg38UCSC Ensembl
chr15:83261838..83394708hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg38132869
hg19132871
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529424
Supporting Variants
Samples
Known GenesAP3B2, CPEB1, LOC283692, LOC283693, LOC338963
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17702540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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