A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6254370



Internal ID22058980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97026107..97026107hg38UCSC Ensembl
chr3:96744951..96744951hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17854388
Samples
Known GenesEPHA6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6254370
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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