A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001260



Internal ID19187217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:14182100..14185201hg38UCSC Ensembl
Outerchr18:14182099..14185200hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153345
Supporting Variants
SamplesKWB1
Known GenesANKRD20A5P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001260
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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