A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6011327



Internal ID21920670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140340025..140340317hg38UCSC Ensembl
chr5:139719610..139719902hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17550316
Samples
Known GenesHBEGF
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6011327
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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