A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125808



Internal ID18928862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48068913..48069050hg38UCSC Ensembl
Outerchr4:48070930..48071067hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3988279, nssv3993896
SamplesKWS2, KWS1
Known GenesTXK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125808
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