A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452312



Internal ID230469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127232168..127268193hg38UCSC Ensembl
chr2:127989744..128025769hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3836026
hg1936026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917741
Samples
Known GenesERCC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452312
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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