A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125063



Internal ID18930370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:97581218..97585718hg38UCSC Ensembl
Outerchr9:100343500..100348000hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg384501
hg194501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977869
SamplesKWS2
Known GenesTMOD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125063
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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