A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243790



Internal ID22048400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:17501916..17501916hg38UCSC Ensembl
chr4:17503539..17503539hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855335
Samples
Known GenesQDPR
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243790
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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