A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000749



Internal ID16947015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:20085378..20303977hg38UCSC Ensembl
Outerchr22:20072901..20291500hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38218600
hg19218600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953027
Supporting Variants
SamplesBILGI_BIOE
Known GenesDGCR8, LINC00896, LOC284865, LOC388849, MIR1286, MIR1306, MIR3618, MIR6816, RANBP1, RTN4R, TRMT2A, ZDHHC8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000749
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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