A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245945



Internal ID22050555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48727645..48727645hg38UCSC Ensembl
chr8:49640204..49640204hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839436
Samples
Known GenesEFCAB1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245945
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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