A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998094



Internal ID19188875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30115892..30117193hg38UCSC Ensembl
Outerchr19:30606799..30608100hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1153054
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998094
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