A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448436



Internal ID226712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26581328..26593107hg38UCSC Ensembl
chr2:26804196..26815975hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3811780
hg1911780
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911039
Samples
Known GenesCIB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448436
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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