A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891312



Internal ID168391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10009197..10015238hg38UCSC Ensembl
chr1:10069255..10075296hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg386042
hg196042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5426467
Supporting Variants
Samples
Known GenesRBP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891312
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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