A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139731



Internal ID19262379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:118137524..118141824hg38UCSC Ensembl
Outerchr2:118895100..118899400hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg384301
hg194301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978070
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139731
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