A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146503



Internal ID18855533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74048369..74050670hg38UCSC Ensembl
Outerchr7:73462699..73465000hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3995657
SamplesKWB1
Known GenesELN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146503
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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