A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4758214



Internal ID20534074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160109782..160109782hg38UCSC Ensembl
chr5:159536789..159536789hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274651
Samples
Known GenesPWWP2A
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4758214
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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