A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245332



Internal ID22049942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21292340..21292340hg38UCSC Ensembl
chr1:21618833..21618833hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17838544
Samples
Known GenesECE1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245332
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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