A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5880957



Internal ID22655928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205374044..205379774hg38UCSC Ensembl
chr1:205343172..205348902hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385731
hg195731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357061
Samples
Known GenesLEMD1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5880957
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