A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15748791



Internal ID21386315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222932650..222933104hg38UCSC Ensembl
chr2:223797368..223797822hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4433692
Supporting Variants
SamplesMDQ010
Known GenesACSL3
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15748791
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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