A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3949449



Internal ID21369520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17616750..17617060hg38UCSC Ensembl
chr22:18099516..18099826hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15179469
SamplesHG002
Known GenesATP6V1E1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3949449
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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