A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244897



Internal ID22049507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140689550..140689550hg38UCSC Ensembl
chr5:140069135..140069135hg19UCSC Ensembl
Cytoband5q31.3
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 Variantsnssv17855664
Samples
Known GenesHARS
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244897
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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