A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2805392



Internal ID21250730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147892495..147892495hg38UCSC Ensembl
chr2:148650064..148650064hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13678323
Samples
Known GenesACVR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2805392
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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