A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17386582



Internal ID22444452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12318644..12335665hg38UCSC Ensembl
chr16:12412501..12429522hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3817022
hg1917022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943511
Supporting Variants
Samples
Known GenesSNX29
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17386582
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