A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378464



Internal ID22436334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4435184..4440105hg38UCSC Ensembl
chr1:4495244..4500165hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg384922
hg194922
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869917
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378464
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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