A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905813



Internal ID4680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84051835..84059417hg38UCSC Ensembl
chr1:84517518..84525100hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg387583
hg197583
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138292
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905813
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.063803


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