A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17108792



Internal ID21441757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147892494..147892494hg38UCSC Ensembl
chr2:148650063..148650063hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5611302
Supporting Variants
SamplesHG00732
Known GenesACVR2A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17108792
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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