A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897805



Internal ID172696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246642535..246642772hg38UCSC Ensembl
chr1:246805837..246806074hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444032
Supporting Variants
Samples
Known GenesCNST
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897805
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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