A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180546



Internal ID20747586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:77125272..78214627hg38UCSC Ensembl
chr16:77159169..78248524hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg381089356
hg191089356
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6506399
Supporting Variants
Samples
Known GenesADAMTS18, CLEC3A, MON1B, NUDT7, SYCE1L, VAT1L, WWOX
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180546
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