A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003011



Internal ID18840869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22577806..22579607hg38UCSC Ensembl
Outerchr1:22904299..22906100hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381802
hg191802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151588
Supporting Variants
SamplesKWB1
Known GenesEPHA8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003011
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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