A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449843



Internal ID228069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182903226..182903284hg38UCSC Ensembl
chr1:182872361..182872419hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892837
Samples
Known GenesSHCBP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449843
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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