A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434055



Internal ID212743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:153716276..153728891hg38UCSC Ensembl
chr2:154572789..154585404hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3812616
hg1912616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920586
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434055
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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