A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138017



Internal ID18925333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:46783884..46783949hg38UCSC Ensembl
Outerchr11:46805434..46805499hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3990554
SamplesKWS2
Known GenesCKAP5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138017
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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