A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16901757



Internal ID1964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42998996..43000959hg38UCSC Ensembl
chr1:43464667..43466630hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427135
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16901757
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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