A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000779



Internal ID17293731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:24161533..24164932hg38UCSC Ensembl
Outerchr22:24557501..24560900hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg383400
hg193400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953057
Supporting Variants
SamplesBILGI_BIOE
Known GenesCABIN1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000779
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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