A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18205500



Internal ID20772540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147843701..147847000hg38UCSC Ensembl
chr2:148601270..148604569hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337547
Supporting Variants
Samples
Known GenesACVR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18205500
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer