A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903978



Internal ID3471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66950685..66950709hg38UCSC Ensembl
chr1:67416368..67416392hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543530
Supporting Variants
Samples
Known GenesMIER1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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