A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358094



Internal ID22583763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:215623429..215623506hg38UCSC Ensembl
chr1:215796771..215796848hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883328
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358094
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