A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147376



Internal ID19199312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:228238398..228239099hg38UCSC Ensembl
Outerchr1:228426099..228426800hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38702
hg19702
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000151
SamplesKWB1
Known GenesOBSCN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147376
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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