A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146388



Internal ID19195863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58728727..58731628hg38UCSC Ensembl
Outerchr1:59194399..59197300hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg382902
hg192902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999591
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146388
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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