A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147751



Internal ID19198803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:10775175..10781076hg38UCSC Ensembl
Outerchr4:10776799..10782700hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385902
hg195902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3996538
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147751
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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