A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877502



Internal ID22652466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51313268..51317494hg38UCSC Ensembl
chr1:51778940..51783166hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384227
hg194227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380248
Samples
Known GenesTTC39A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877502
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