A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18172832



Internal ID20739872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92076101..92077300hg38UCSC Ensembl
chr8:93088329..93089528hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6418759
Supporting Variants
Samples
Known GenesRUNX1T1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18172832
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00018


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