A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6525136



Internal ID20898497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:114561..252421hg38UCSC Ensembl
chr18:114561..252421hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38137861
hg19137861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182411
Samples
Known GenesROCK1P1, THOC1, USP14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6525136
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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