A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18078765



Internal ID20645805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147866684..147867069hg38UCSC Ensembl
chr2:148624253..148624638hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6337238
Supporting Variants
Samples
Known GenesACVR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18078765
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00082


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