A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608883



Internal ID21557188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243371855..243371855hg38UCSC Ensembl
chr1:243535157..243535157hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063832
SamplesHG03371
Known GenesSDCCAG8
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608883
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