A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148541



Internal ID19202658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:126927844..126932545hg38UCSC Ensembl
Outerchr4:127848999..127853700hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg384702
hg194702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000581
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148541
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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