A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6078321



Internal ID21987554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147729174..147729174hg38UCSC Ensembl
chr5:147108737..147108737hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17563855
Samples
Known GenesJAKMIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6078321
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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