A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450155



Internal ID228372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16574084..16580323hg38UCSC Ensembl
chr2:16755352..16761591hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg386240
hg196240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909202
Samples
Known GenesFAM49A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450155
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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