A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000747



Internal ID17293699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:19869078..19937977hg38UCSC Ensembl
Outerchr22:19856601..19925500hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3868900
hg1968900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953025
Supporting Variants
SamplesBILGI_BIOE
Known GenesTXNRD2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000747
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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