A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904535



Internal ID3844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:64973143..64973241hg38UCSC Ensembl
chr1:65438826..65438924hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5419158
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904535
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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