A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439984



Internal ID218508
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 StatusM
Merged Variants
Supporting Variantsnssv16922456
Samples
Known GenesPDE1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439984
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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