A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366567



Internal ID22592236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166088301..166088587hg38UCSC Ensembl
chr1:166057538..166057824hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5882880
Supporting Variants
Samples
Known GenesFAM78B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366567
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