A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17382644



Internal ID22440514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78496659..78504970hg38UCSC Ensembl
chr17:76492741..76501052hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg388312
hg198312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933243
Supporting Variants
Samples
Known GenesDNAH17, DNAH17-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17382644
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