A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1109546



Internal ID18923020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133414738..133414945hg38UCSC Ensembl
Outerchr3:133133582..133133789hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957041
SamplesKWS1
Known GenesBFSP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1109546
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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