A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5902978



Internal ID22678141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31926336..31926468hg38UCSC Ensembl
chr5:31926442..31926574hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17426699
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5902978
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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