A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1142542



Internal ID19275236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142122637..142122725hg38UCSC Ensembl
Outerchr8:143203998..143204086hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980404, nssv3963467
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1142542
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