A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337547



Internal ID20995100
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 StatusM
Merged Variants
Supporting Variantsnssv18205500
Samples
Known GenesACVR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337547
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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