A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244872



Internal ID22049482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136135025..136135025hg38UCSC Ensembl
chr5:135470714..135470714hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858295
Samples
Known GenesSMAD5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244872
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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