A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436352



Internal ID214972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69221487..69222447hg38UCSC Ensembl
chr2:69448619..69449579hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38961
hg19961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913973
Samples
Known GenesANTXR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436352
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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