A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147389



Internal ID18853177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:83892708..83892775hg38UCSC Ensembl
Outerchr1:84358391..84358458hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000164
SamplesKWB1
Known GenesMIR548AP, TTLL7
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147389
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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