A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16951483



Internal ID35011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82914838..82914889hg38UCSC Ensembl
chr4:83835991..83836042hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5405477
Supporting Variants
Samples
Known GenesTHAP9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16951483
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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