A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420172



Internal ID199283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:37742576..37742736hg38UCSC Ensembl
chr1:38208248..38208408hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902059
Samples
Known GenesEPHA10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420172
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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