A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448151



Internal ID226432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134793478..134795226hg38UCSC Ensembl
chr2:135551048..135552796hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg381749
hg191749
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924247
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448151
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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