A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435852



Internal ID214482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:225182984..225184236hg38UCSC Ensembl
chr1:225370686..225371938hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381253
hg191253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897358
Samples
Known GenesDNAH14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435852
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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