A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6064309



Internal ID21973542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:5472086..5472086hg38UCSC Ensembl
chr5:5472199..5472199hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17550332
Samples
Known GenesKIAA0947
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6064309
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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