A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127231



Internal ID19270777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:108058348..108058416hg38UCSC Ensembl
Outerchr11:107929075..107929143hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985616
SamplesKWS1
Known GenesCUL5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127231
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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