A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570482



Internal ID21518848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201685208..201685276hg38UCSC Ensembl
chr2:202549931..202549999hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111394
SamplesHG00731
Known GenesMPP4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570482
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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