A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6063349



Internal ID21972582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:72330583..72330583hg38UCSC Ensembl
chr5:71626410..71626410hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17556573
Samples
Known GenesPTCD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6063349
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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