A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4746048



Internal ID20522059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73247462..73248116hg38UCSC Ensembl
chr14:73714170..73714824hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16284218
Samples
Known GenesPAPLN
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4746048
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