A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5829687



Internal ID22604622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30713753..30716006hg38UCSC Ensembl
chr1:31186600..31188853hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg382254
hg192254
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17467600
Samples
Known GenesMATN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5829687
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer