A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16898856



Internal ID14
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248938182..248945600hg38UCSC Ensembl
chr1:249232381..249239799hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387419
hg197419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139225
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16898856
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.508267


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