A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002271



Internal ID18839914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102635252..102637953hg38UCSC Ensembl
Outerchr7:102275699..102278400hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382702
hg192702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153617
Supporting Variants
SamplesKWB1
Known GenesPOLR2J2, UPK3BL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002271
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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