A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18176819



Internal ID20743859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127649025..127651185hg38UCSC Ensembl
chr9:130411304..130413464hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg382161
hg192161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6435781
Supporting Variants
Samples
Known GenesSTXBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18176819
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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