A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6069955



Internal ID21979188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172368496..172368496hg38UCSC Ensembl
chr5:171795500..171795500hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17573920
Samples
Known GenesSH3PXD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6069955
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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