A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5883728



Internal ID22658710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170970343..170971600hg38UCSC Ensembl
chr1:170939484..170940741hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg381258
hg191258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365632
Samples
Known GenesMROH9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5883728
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