A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17488694



Internal ID22546611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170933680..170937632hg38UCSC Ensembl
chr2:171790190..171794142hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383953
hg193953
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5831433
Supporting Variants
Samples
Known GenesGORASP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17488694
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer