A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753721



Internal ID20529581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:51428961..51428961hg38UCSC Ensembl
chr8:52341521..52341521hg19UCSC Ensembl
Cytoband8q11.22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16279084
Samples
Known GenesPXDNL
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753721
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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