A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742031



Internal ID20518010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172368456..172368671hg38UCSC Ensembl
chr5:171795460..171795675hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16290933
Samples
Known GenesSH3PXD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742031
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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