A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922456



Internal ID15731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182243768..182248625hg38UCSC Ensembl
chr2:183108495..183113352hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg384858
hg194858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439984
Supporting Variants
Samples
Known GenesPDE1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922456
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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