A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152529



Internal ID18850959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:2858901..2865002hg38UCSC Ensembl
Outerchr18:2858899..2865000hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg386102
hg196102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999710
SamplesKWB1
Known GenesEMILIN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152529
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