A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399072



Internal ID22456942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38247034..38247129hg38UCSC Ensembl
chr21:39618956..39619051hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5966300
Supporting Variants
Samples
Known GenesKCNJ15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399072
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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