A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750438



Internal ID20506167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143427127..143427127hg38UCSC Ensembl
chr6:143748264..143748264hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282035
Samples
Known GenesADAT2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750438
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