A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111016



Internal ID18902538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:242394979..242395061hg38UCSC Ensembl
Outerchr1:242558281..242558363hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961451
SamplesKWS1
Known GenesPLD5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111016
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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