A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451836



Internal ID230005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:166647095..167119734hg38UCSC Ensembl
chr2:167503605..167976244hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38472640
hg19472640
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16926727
Samples
Known GenesXIRP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451836
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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