A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889963



Internal ID167424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120753000..120762000hg38UCSC Ensembl
chr1:145238180..145247191hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg389001
hg199012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138994
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9, NOTCH2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889963
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000435


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