A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6256648



Internal ID22061258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11021290..11021290hg38UCSC Ensembl
chr6:11021523..11021523hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858761
Samples
Known GenesELOVL2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6256648
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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