A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427725



Internal ID22485595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47709344..47710147hg38UCSC Ensembl
chr4:47711361..47712164hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38804
hg19804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5888056
Supporting Variants
Samples
Known GenesCORIN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427725
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