A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213078



Internal ID20780118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143093601..143102200hg38UCSC Ensembl
chr4:144014754..144023353hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg388600
hg198600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6393941
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213078
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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