A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000744



Internal ID16947010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19121688..19141287hg38UCSC Ensembl
Outerchr22:19109201..19128800hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3819600
hg1919600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953022
Supporting Variants
SamplesBILGI_BIOE
Known GenesDGCR14, DGCR2, TSSK2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000744
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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