A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5579419



Internal ID21527899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231165024..231165077hg38UCSC Ensembl
chr2:232029738..232029791hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111795
SamplesNA12878
Known GenesPSMD1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5579419
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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