A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436503



Internal ID215117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209545243..209571119hg38UCSC Ensembl
chr1:209718588..209744464hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3825877
hg1925877
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896968
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436503
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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