A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480406



Internal ID22538309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8464606..8466905hg38UCSC Ensembl
chr19:8529490..8531789hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886735
Supporting Variants
Samples
Known GenesHNRNPM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480406
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