A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618700



Internal ID21567005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191376..191376hg38UCSC Ensembl
chr2:114350167..114350167hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg382014
hg192014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062005
SamplesHG03009
Known GenesWASH2P
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618700
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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