A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425283



Internal ID204252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8156494..8180550hg38UCSC Ensembl
chr1:8216554..8240610hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3824057
hg1924057
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907890
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425283
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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