A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16958528



Internal ID39662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140134464..140134515hg38UCSC Ensembl
chr4:141055618..141055669hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403921
Supporting Variants
Samples
Known GenesMAML3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16958528
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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