A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146863



Internal ID18848544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:110524386..110524454hg38UCSC Ensembl
Outerchr1:111067008..111067076hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998228
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146863
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer