A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4743081



Internal ID20519067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108505311..108505367hg38UCSC Ensembl
chr7:108145755..108145811hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16292310
Samples
Known GenesPNPLA8
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4743081
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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