A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908612



Internal ID6529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100194411..100194529hg38UCSC Ensembl
chr1:100659967..100660085hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415239
Supporting Variants
Samples
Known GenesDBT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908612
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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