A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6070619



Internal ID21979852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38402670..38402670hg38UCSC Ensembl
chr5:38402772..38402772hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17548240
Samples
Known GenesEGFLAM, EGFLAM-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6070619
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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