A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139705



Internal ID18922260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43727148..43729748hg38UCSC Ensembl
Outerchr19:44231300..44233900hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977291
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139705
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