A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118223



Internal ID18903100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:120511391..120511991hg38UCSC Ensembl
Outerchr11:120382100..120382700hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980892
SamplesKWS1
Known GenesGRIK4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118223
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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