A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17847067



Internal ID22030710
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 StatusS
Merged Variantsnsv6258675
Supporting Variants
Samples
Known GenesAKAP6
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17847067
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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