A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116399



Internal ID19286614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:10667744..10667812hg38UCSC Ensembl
Outerchr4:10669368..10669436hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978583
SamplesKWS2
Known GenesCLNK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116399
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