A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889040



Internal ID166759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120413835..120621835hg38UCSC Ensembl
chr1:144592496..144996071hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38208001
hg19403576
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139042
Supporting Variants
Samples
Known GenesLOC100288142, LOC653513, NBPF8, NBPF9, PDE4DIP, PFN1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889040
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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