A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423696



Internal ID202709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153176616..153176703hg38UCSC Ensembl
chr1:153149092..153149179hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890828
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423696
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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