A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15185559



Internal ID21324372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23218258..23218258hg38UCSC Ensembl
chr18:20798222..20798222hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927030
Supporting Variants
SamplesHG002
Known GenesCABLES1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15185559
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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