A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17468045



Internal ID22525934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121225434..121226634hg38UCSC Ensembl
chr12:121663237..121664437hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5863214
Supporting Variants
Samples
Known GenesP2RX4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17468045
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