A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17374973



Internal ID22600642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46882536..46898448hg38UCSC Ensembl
chr1:47348208..47364120hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3815913
hg1915913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887253
Supporting Variants
Samples
Known GenesCYP4Z2P
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17374973
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer