A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128781



Internal ID19254578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40684795..40690495hg38UCSC Ensembl
Outerchr19:41190700..41196400hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg385701
hg195701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1782n106
Supporting Variantsnssv3960696
SamplesKWS1
Known GenesNUMBL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128781
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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