A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928603



Internal ID19786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232343963..232451809hg38UCSC Ensembl
chr2:233208673..233316519hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38107847
hg19107847
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139392
Supporting Variants
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928603
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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