A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6256309



Internal ID22060919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154914462..154914462hg38UCSC Ensembl
chr5:154294022..154294022hg19UCSC Ensembl
Cytoband5q33.2
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 Variantsnssv17858621
Samples
Known GenesGEMIN5
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6256309
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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