A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4736889



Internal ID20512842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30972259..30972312hg38UCSC Ensembl
chr1:31445106..31445159hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295352
Samples
Known GenesPUM1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4736889
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