A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5572560



Internal ID21520951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:204713378..204713432hg38UCSC Ensembl
chr2:205578101..205578155hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111198
SamplesHG03125
Known GenesPARD3B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5572560
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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