A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243701



Internal ID22048311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2228357..2228357hg38UCSC Ensembl
chr4:2230084..2230084hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17855012
Samples
Known GenesPOLN
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243701
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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