A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16295649



Internal ID20504867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10758254..10758254hg38UCSC Ensembl
chr19:10868930..10868930hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4751435
Supporting Variants
Samples
Known GenesDNM2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16295649
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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