A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448517



Internal ID226790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177747825..177751094hg38UCSC Ensembl
chr2:178612553..178615822hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg383270
hg193270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921179
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448517
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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