A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5881134



Internal ID22656108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51334418..51335475hg38UCSC Ensembl
chr1:51800090..51801147hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381058
hg191058
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380026
Samples
Known GenesTTC39A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5881134
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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