A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439436



Internal ID217972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208191618..208200000hg38UCSC Ensembl
chr2:209056342..209064724hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg388383
hg198383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928045
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439436
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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