A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148393



Internal ID19199079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:143276001..143288286hg38UCSC Ensembl
Outerchr1:149021799..149035900hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3812286
hg1914102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000427
SamplesKWB1
Known GenesLOC101929780
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148393
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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