A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439271



Internal ID217811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71293619..71345214hg38UCSC Ensembl
chr2:71520749..71572344hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3851596
hg1951596
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916077
Samples
Known GenesZNF638
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439271
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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