A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377482



Internal ID22435352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:65642419..65643148hg38UCSC Ensembl
chr17:63638537..63639266hg19UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928046
Supporting Variants
Samples
Known GenesCEP112
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377482
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