A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000819



Internal ID17293771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45240320..45241219hg38UCSC Ensembl
Outerchr22:45636201..45637100hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv955173
Supporting Variants
SamplesBILGI_BIOE
Known GenesKIAA0930
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000819
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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