A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999007



Internal ID19189485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13152424..13152482hg38UCSC Ensembl
Outerchr18:13152423..13152481hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151824
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999007
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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