A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252939



Internal ID22057549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45206280..45206280hg38UCSC Ensembl
chr1:45671952..45671952hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852292
Samples
Known GenesZSWIM5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252939
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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