A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435916



Internal ID214546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179099603..179106758hg38UCSC Ensembl
chr2:179964330..179971485hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg387156
hg197156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921200
Samples
Known GenesSESTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435916
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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