A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17379103



Internal ID22436973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57695742..57697211hg38UCSC Ensembl
chr16:57729654..57731123hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg381470
hg191470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940317
Supporting Variants
Samples
Known GenesCCDC135
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17379103
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