A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898148



Internal ID172913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243514237..243514357hg38UCSC Ensembl
chr1:243677539..243677659hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444195
Supporting Variants
Samples
Known GenesAKT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898148
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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