A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116364



Internal ID18926429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11488890..11488947hg38UCSC Ensembl
Outerchr2:11629016..11629073hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955497
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116364
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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