A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444124



Internal ID222505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236957747..236970326hg38UCSC Ensembl
chr1:237121047..237133626hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3812580
hg1912580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898778
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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