A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448681



Internal ID226945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135214229..135218828hg38UCSC Ensembl
chr2:135971799..135976398hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918819
Samples
Known GenesZRANB3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448681
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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