A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16902995



Internal ID2815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51449481..51451783hg38UCSC Ensembl
chr1:51915153..51917455hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382303
hg192303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416207
Supporting Variants
Samples
Known GenesEPS15
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16902995
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.012957


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