A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17113283



Internal ID21503334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48469431..48469516hg38UCSC Ensembl
chr2:48696570..48696655hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5567315
Supporting Variants
SamplesNA19239
Known GenesPPP1R21
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17113283
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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