A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904199



Internal ID3618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63617069..63617120hg38UCSC Ensembl
chr1:64082740..64082791hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5406638
Supporting Variants
Samples
Known GenesPGM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904199
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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