A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550053



Internal ID323650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203731702..203731712hg38UCSC Ensembl
chr1:203700830..203700840hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894910
Samples
Known GenesATP2B4, LINC00260
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550053
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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