A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244416



Internal ID22049026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78448345..78448345hg38UCSC Ensembl
chr5:77744169..77744169hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858139
Samples
Known GenesSCAMP1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244416
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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