A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258675



Internal ID22063285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32333727..32333727hg38UCSC Ensembl
chr14:32802933..32802933hg19UCSC Ensembl
Cytoband14q12
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 Variantsnssv17847067
Samples
Known GenesAKAP6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258675
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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