A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482706



Internal ID260154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38078585..38160675hg38UCSC Ensembl
chr8:37936103..38018193hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg3882091
hg1982091
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010636
Samples
Known GenesASH2L, STAR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482706
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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