A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000825



Internal ID17293777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46533004..46686403hg38UCSC Ensembl
Outerchr22:46928901..47082300hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38153400
hg19153400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955179
Supporting Variants
SamplesBILGI_BIOE
Known GenesCELSR1, CERK, GRAMD4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000825
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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