A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244334



Internal ID22048944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88983836..88983836hg38UCSC Ensembl
chr1:89449519..89449519hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17856053
Samples
Known GenesCCBL2, RBMXL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244334
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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