A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213215



Internal ID20780255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141897529..141988493hg38UCSC Ensembl
chr5:141277094..141368058hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3890965
hg1990965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6405955
Supporting Variants
Samples
Known GenesKIAA0141, PCDH12, RNF14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213215
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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