A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480508



Internal ID22538411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53886307..53887756hg38UCSC Ensembl
chr1:54351980..54353429hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381450
hg191450
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830367
Supporting Variants
Samples
Known GenesYIPF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480508
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