A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16280974



Internal ID20490192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:34849276..34849276hg38UCSC Ensembl
chr21:36221573..36221573hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4751159
Supporting Variants
Samples
Known GenesRUNX1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16280974
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