A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372354



Internal ID22598023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74801385..74801473hg38UCSC Ensembl
chr17:72797524..72797612hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930338
Supporting Variants
Samples
Known GenesTMEM104
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372354
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