A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892164



Internal ID22667209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43149129..43152289hg38UCSC Ensembl
chr6:43116867..43120027hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg383161
hg193161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435458
Samples
Known GenesPTK7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892164
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