A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435321



Internal ID213972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202171458..202171532hg38UCSC Ensembl
chr2:203036181..203036255hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922890
Samples
Known GenesLOC100652824
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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