A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118203



Internal ID18925346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2137170..2139570hg38UCSC Ensembl
Outerchr11:2158400..2160800hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980872
SamplesKWS1
Known GenesIGF2, INS-IGF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118203
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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