A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5572791



Internal ID21521185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157862573..157862883hg38UCSC Ensembl
chr2:158719085..158719395hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17110374
SamplesHG00731
Known GenesACVR1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5572791
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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