A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753295



Internal ID20529155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132208360..132208360hg38UCSC Ensembl
chr5:131544053..131544053hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16277821
Samples
Known GenesP4HA2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753295
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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