A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16281186



Internal ID20490404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:878787..878787hg38UCSC Ensembl
chr12:987953..987953hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4757303
Supporting Variants
Samples
Known GenesWNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16281186
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