A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890222



Internal ID167641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9270732..9351895hg38UCSC Ensembl
chr1:9330791..9411954hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3881164
hg1981164
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424071
Supporting Variants
Samples
Known GenesH6PD, SPSB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890222
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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