A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444664



Internal ID223035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204213765..204234574hg38UCSC Ensembl
chr1:204182893..204203702hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3820810
hg1920810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895573
Samples
Known GenesGOLT1A, PLEKHA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444664
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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