A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448823



Internal ID227082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148245907..148259068hg38UCSC Ensembl
chr2:149003476..149016637hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3813162
hg1913162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919059
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448823
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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