A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882101



Internal ID22657078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176809326..176834493hg38UCSC Ensembl
chr1:176778462..176803629hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3825168
hg1925168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359359
Samples
Known GenesPAPPA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882101
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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