A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541652



Internal ID316229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182264870..182264921hg38UCSC Ensembl
chr2:183129597..183129648hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922457
Samples
Known GenesPDE1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541652
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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