A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000807



Internal ID17293759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40676797..40685096hg38UCSC Ensembl
Outerchr22:41072801..41081100hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg388300
hg198300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955161
Supporting Variants
SamplesBILGI_BIOE
Known GenesMCHR1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000807
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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