A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17386253



Internal ID22444123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16441128..16441364hg38UCSC Ensembl
chr17:16344442..16344678hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930079
Supporting Variants
Samples
Known GenesFAM211A-AS1, SNORD65
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17386253
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