A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446725



Internal ID225045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204347711..204347779hg38UCSC Ensembl
chr2:205212434..205212502hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924711
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446725
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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