A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17111198



Internal ID21468108
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 StatusS
Merged Variantsnsv5572560
Supporting Variants
SamplesHG03125
Known GenesPARD3B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17111198
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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