A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200148



Internal ID20767188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143526801..143739600hg38UCSC Ensembl
chr1:149021462..149234250hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38212800
hg19212789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6327067
Supporting Variants
Samples
Known GenesLOC101929780, NBPF23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200148
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02805


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