A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5571562



Internal ID21519943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241108983..241109064hg38UCSC Ensembl
chr2:242048398..242048479hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113864
SamplesHG00512
Known GenesPASK
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5571562
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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