A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6256512



Internal ID22061122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177066574..177066574hg38UCSC Ensembl
chr5:176493575..176493575hg19UCSC Ensembl
Cytoband5q35.2
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 Variantsnssv17858904
Samples
Known GenesZNF346
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6256512
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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