A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912992



Internal ID22688208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128263664..128270519hg38UCSC Ensembl
chr9:131025943..131032798hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg386856
hg196856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17447955
Samples
Known GenesGOLGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912992
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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