A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253321



Internal ID22057931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210081815..210081815hg38UCSC Ensembl
chr2:210946539..210946539hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17851985
Samples
Known GenesKANSL1L
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253321
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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