A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17486866



Internal ID22544781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:53772358..53782020hg38UCSC Ensembl
chr2:53999495..54009157hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg389663
hg199663
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5833305
Supporting Variants
Samples
Known GenesASB3, CHAC2, GPR75-ASB3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17486866
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