A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6517830



Internal ID20891191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:58533656..58672213hg38UCSC Ensembl
chr18:56200888..56339445hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38138558
hg19138558
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179839
Samples
Known GenesALPK2, MALT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6517830
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