A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891313



Internal ID168392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10010305..10016506hg38UCSC Ensembl
chr1:10070363..10076564hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg386202
hg196202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415321
Supporting Variants
Samples
Known GenesRBP7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891313
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005309


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