A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442034



Internal ID220479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10011000..10016000hg38UCSC Ensembl
chr2:10151127..10156127hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909962
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442034
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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