A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4762947



Internal ID20538807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:5144403..5144403hg38UCSC Ensembl
chr19:5144414..5144414hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284447
Samples
Known GenesKDM4B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4762947
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer