A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17065613



Internal ID21479448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52923161..52923161hg38UCSC Ensembl
chr1:53388833..53388833hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5618469
Supporting Variants
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17065613
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