A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545951



Internal ID319951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203362828..203362828hg38UCSC Ensembl
chr2:204227551..204227551hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38223
hg19223
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922926
Samples
Known GenesABI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545951
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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