A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6051300



Internal ID21960533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7911148..7918087hg38UCSC Ensembl
chr19:7976033..7982972hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386940
hg196940
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17622945
Samples
Known GenesMAP2K7, TGFBR3L
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6051300
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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