A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5897628



Internal ID22672732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130144679..130145195hg38UCSC Ensembl
chr6:130465824..130466340hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410571
Samples
Known GenesSAMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5897628
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