A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6337238



Internal ID20994791
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 StatusM
Merged Variants
Supporting Variantsnssv18078765
Samples
Known GenesACVR2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6337238
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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