A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17363157



Internal ID22588826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222832809..222833272hg38UCSC Ensembl
chr1:223006151..223006614hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38464
hg19464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868524
Supporting Variants
Samples
Known GenesDISP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17363157
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