A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16903982



Internal ID3473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66988418..66988473hg38UCSC Ensembl
chr1:67454101..67454156hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425726
Supporting Variants
Samples
Known GenesMIER1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16903982
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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