A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6321468



Internal ID20854574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:81856501..81859100hg38UCSC Ensembl
chr1:82322186..82324785hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382600
hg192600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18063280
Samples
Known GenesLPHN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6321468
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