A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894513



Internal ID22669586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196767671..196775557hg38UCSC Ensembl
chr3:196494542..196502428hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg387887
hg197887
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17420134
Samples
Known GenesPAK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894513
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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