A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906923



Internal ID22682127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43151281..43151600hg38UCSC Ensembl
chr6:43119019..43119338hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17448556
Samples
Known GenesPTK7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906923
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