A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448109



Internal ID22505979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:95939809..95939936hg38UCSC Ensembl
chr7:95569121..95569248hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5915540
Supporting Variants
Samples
Known GenesDYNC1I1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448109
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