A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17460431



Internal ID22518315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154220277..154221554hg38UCSC Ensembl
chr1:154192753..154194030hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381278
hg191278
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5828247
Supporting Variants
Samples
Known GenesC1orf43, UBAP2L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17460431
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