A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5920800



Internal ID22696023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30439232..30445297hg38UCSC Ensembl
chr7:30478848..30484913hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg386066
hg196066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443210
Samples
Known GenesNOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5920800
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