A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434507



Internal ID213180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109589618..109812809hg38UCSC Ensembl
chr2:110347195..110570386hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38223192
hg19223192
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917920
Samples
Known GenesRGPD5, RGPD6, SEPT10, SOWAHC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434507
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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