A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001417



Internal ID19190087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11299..51800hg38UCSC Ensembl
Outerchr18:11299..51800hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg3840502
hg1940502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153501
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001417
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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