A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480088



Internal ID22537991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52004242..52012478hg38UCSC Ensembl
chr1:52469914..52478150hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg388237
hg198237
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830250
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480088
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