A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147530



Internal ID18850330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125183155..125183498hg38UCSC Ensembl
Outerchr11:125053051..125053394hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000306
SamplesKWB1
Known GenesPKNOX2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147530
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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