A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953739



Internal ID22729018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52645396..52645396hg38UCSC Ensembl
chr1:53111068..53111068hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389081
Samples
Known GenesFAM159A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953739
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