A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894950



Internal ID170807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1303988..1344000hg38UCSC Ensembl
chr1:1239368..1279380hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3840013
hg1940013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138979
Supporting Variants
Samples
Known GenesACAP3, CPSF3L, DVL1, GLTPD1, MIR6727, MIR6808, PUSL1, TAS1R3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894950
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.428846


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