A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213219



Internal ID20780259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:14236796..14758136hg38UCSC Ensembl
chr5:14236905..14758245hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38521341
hg19521341
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6394264
Supporting Variants
Samples
Known GenesANKH, FAM105A, FAM105B, LOC100130744, TRIO
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213219
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