A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442879



Internal ID221292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184182054..184182148hg38UCSC Ensembl
chr3:183899842..183899936hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943323
Samples
Known GenesAP2M1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442879
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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