A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6523461



Internal ID20896822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46070801..46071800hg38UCSC Ensembl
chr18:43650767..43651766hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18041892
Samples
Known GenesPSTPIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6523461
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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