A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139801



Internal ID19278561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:143920858..143924758hg38UCSC Ensembl
Outerchr3:143639700..143643600hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978137
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139801
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