A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142068



Internal ID18901686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111502067..111502212hg38UCSC Ensembl
Outerchr1:112044689..112044834hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3979129, nssv3960967
SamplesKWS1, KWS2
Known GenesADORA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142068
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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