A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244228



Internal ID22048838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:70601955..70601955hg38UCSC Ensembl
chr4:71467672..71467672hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855430
Samples
Known GenesAMBN
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244228
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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