A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527908



Internal ID303987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2701346..2701479hg38UCSC Ensembl
chr19:2701344..2701477hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17720444
Samples
Known GenesGNG7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527908
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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